Faculty Profiles - ishimura masataka

Information

写真a

ishimura masataka

Organization

Faculty of Medical Sciences Lecturer

Tel

0926425421

Profile

小児科における診療・教育・研究を行っている。診療においては小児血液・免疫領域において専門的に担当しており、まれな遺伝性疾患や小児血液・免疫疾患に対して高度な医療の提供（免疫抑制療法、根治目的の造血細胞移植や凝固異常症の治療）を行っている。教育に関しては医学部学生講義、ベッドサイド実習、初期研修医・小児科専攻医に対する指導および大学院生に対しても研究指導を行っている。研究に関しては遺伝性血液疾患・凝固異常症、免疫不全症、小児膠原病を中心に基礎研究及び臨床研究を行っている。

External link

Degree

MD, PhD

Research History

なし

なし
なし

Research Interests・Research Keywords

Research theme：Pathogeneisis of autoinflammatory disorder

Keyword：autoinflammatory disorder, pediodic fever

Research period： 2017.4
Research theme：regenerative medicine for congenital coagulation defect

Keyword：regenerative medicine

Research period： 2012.4
Research theme：Primary immunodeficiency diseases

Keyword：PID, epidemiology

Research period： 2008.6
Research theme：Research of Early diagnostic method for HNL and JIA

Keyword：early diagnosis method

Research period： 2008.4
Research theme：Gene therapy

Keyword：gene therapy

Research period： 2008.4

Awards

野崎賞

2013.6 九州大学小児科同門会
野崎賞

2012.6 九州大学小児科同門会

Papers

Progressive B cell depletion in human MALT1 deficiency. International journal

Clinical and experimental immunology 206 ( 3 ) 237 - 247 2021.12

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Language：English Publishing type：Research paper (scientific journal)

DOI： 10.1111/cei.13662
The immunoregulatory function of peripheral blood CD71+ erythroid cells in systemic-onset juvenile idiopathic arthritis. International journal

Hikaru Kanemasa, Masataka Ishimura, Katsuhide Eguchi, Tamami Tanaka, Etsuro Nanishi, Akira Shiraishi, Motohiro Goto, Yoshitomo Motomura, Shouichi Ohga

Scientific reports 11 ( 1 ) 14396 - 14396 2021.7

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Language：English Publishing type：Research paper (scientific journal)

DOI： 10.1038/s41598-021-93831-3
Cytomegalovirus-Associated Hemolytic Anemia in an Infant Born to a Mother with Lupus Reviewed International journal

Yamamoto S, Shiraishi A, Ishimura M*, Motomura Y, Yada Y, Moriuchi H, Ohga S

Neonatology 2021.5

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Language：Japanese Publishing type：Research paper (scientific journal)

DOI： 10.1159/000515770.
Lipopolysaccharide-induced monocyte death in a novel ZnF7 domain mutation of TNFAIP3. International journal

Takashi Imai, Akira Shiraishi, Kei Nishiyama, Masataka Ishimura, Shouichi Ohga

The journal of allergy and clinical immunology. In practice 8 ( 6 ) 2071 - 2074 2020.6

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DOI： 10.1016/j.jaip.2020.01.026
Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis.

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Shunsuke Kanno, Noriyuki Kaku, Hirosuke Inoue, Yoshitomo Motomura, Masayuki Ochiai, Yasunari Sakai, Manabu Nakayama, Osamu Ohara, Shouichi Ohga

International journal of hematology 111 ( 1 ) 131 - 136 2020.1

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Language：English Publishing type：Research paper (scientific journal)

DOI： 10.1007/s12185-019-02738-3
Systemic Epstein-Barr virus-positive T/NK lymphoproliferative diseases with SH2D1A/XIAP hypomorphic gene variants Invited Reviewed International journal

Ishimura M*, Eguchi K, Shiraishi A, Sonoda M, Azuma Y, Yamamoto H, Imadome K, Ohga S

Front Pediatr. 2019.5

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Language：Japanese Publishing type：Research paper (scientific journal)

DOI： 10.3389/fped.2019.00183
Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection. International journal

Sayaka Okuzono, Masataka Ishimura, Shunsuke Kanno, Motoshi Sonoda, Noriyuki Kaku, Yoshitomo Motomura, Hisanori Nishio, Utako Oba, Masuo Hanada, Jun-Ichi Fukushi, Michiyo Urata, Dongchon Kang, Hidetoshi Takada, Shouichi Ohga

Annals of clinical microbiology and antimicrobials 17 ( 1 ) 31 - 31 2018.7

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DOI： 10.1186/s12941-018-0282-9
Fever and Skin Involvement at Diagnosis Predicting the Intractable Langerhans Cell Histiocytosis: 40 Case-Series in a Single Center. International journal

Tetsuko Kobayashi, Yuhki Koga, Masataka Ishimura, Kentaro Nakashima, Wakako Kato, Hiroaki Ono, Motoshi Sonoda, Katsuhide Eguchi, Reiji Fukano, Satoshi Honjo, Yoshinao Oda, Shouichi Ohga

Journal of pediatric hematology/oncology 40 ( 3 ) e148-e153 2018.4

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DOI： 10.1097/MPH.0000000000001080
A non-invasive diagnosis of histiocytic necrotizing lymphadenitis by means of gene expression profile analysis of peripheral blood mononuclear cells. International journal

Masataka Ishimura, Hiroyuki Yamamoto, Yumi Mizuno, Hidetoshi Takada, Motohiro Goto, Takehiko Doi, Takayuki Hoshina, Shouichi Ohga, Koichi Ohshima, Toshiro Hara

Journal of clinical immunology 33 ( 5 ) 1018 - 26 2013.7

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DOI： 10.1007/s10875-013-9897-y
Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan Reviewed International journal

Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T

Journal of Clinical Immunology 31 2011.12

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Nationwide survey of patients with primary immunodeficiency diseases in Japan. International journal

Masataka Ishimura, Hidetoshi Takada, Takehiko Doi, Kousuke Imai, Yoji Sasahara, Hirokazu Kanegane, Ryuta Nishikomori, Tomohiro Morio, Toshio Heike, Masao Kobayashi, Tadashi Ariga, Shigeru Tsuchiya, Shigeaki Nonoyama, Toshio Miyawaki, Toshiro Hara

Journal of clinical immunology 31 ( 6 ) 968 - 76 2011.12

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Language：English Publishing type：Research paper (scientific journal)

DOI： 10.1007/s10875-011-9594-7
Hepatitis-associated aplastic anemia during a primary infection of genotype 1a torque teno virus. International journal

Masataka Ishimura, Shouichi Ohga, Masako Ichiyama, Koichi Kusuhara, Hidetoshi Takada, Toshiro Hara, Masaharu Takahashi, Hiroaki Okamoto

European journal of pediatrics 169 ( 7 ) 899 - 902 2010.7

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Language：English Publishing type：Research paper (scientific journal)

DOI： 10.1007/s00431-009-1116-8
Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy. International journal

Masataka Ishimura, Mitsumasa Saito, Shouichi Ohga, Takayuki Hoshina, Haruhisa Baba, Michiyo Urata, Ryutaro Kira, Hidetoshi Takada, Koichi Kusuhara, Dongchon Kang, Toshiro Hara

European journal of pediatrics 168 ( 6 ) 673 - 7 2009.6

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DOI： 10.1007/s00431-008-0816-9
Malignant hepatic tumor occurring 10 yrs after a histocompatible sibling donor bone marrow transplantation for severe aplastic anemia. International journal

Masataka Ishimura, Shouichi Ohga, Yoshihisa Nagatoshi, Jun Okamura, Tatsuro Tajiri, Kenichi Kohashi, Yoshinao Oda, Hidetoshi Takada, Toshiro Hara

Pediatric transplantation 11 ( 8 ) 945 - 9 2007.12

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Successful umbilical cord blood transplantation for severe chronic active Epstein-Barr virus infection after the double failure of hematopoietic stem cell transplantation. International journal

Masataka Ishimura, Shouichi Ohga, Akihiko Nomura, Taikai Toubo, Eiji Morihana, Yusuke Saito, Hisanori Nishio, Makoto Ide, Hidetoshi Takada, Toshiro Hara

American journal of hematology 80 ( 3 ) 207 - 12 2005.11

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Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan Reviewed International coauthorship International journal

Tomomasa, D; Suzuki, T; Takeuchi, I; Goto, K; Hagiwara, SI; Keino, D; Saida, S; Ishige, T; Kudo, T; Eguchi, K; Ishimura, M; Matsuda, Y; Wada, T; Ito, Y; Kato, M; Sasahara, Y; Morio, T; Arai, K; Uhlig, HH; Kanegane, H

JOURNAL OF CLINICAL IMMUNOLOGY 45 ( 1 ) 6 2025.12 （ ISSN:0271-9142 eISSN:1573-2592 ）

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Language：English Publishing type：Research paper (scientific journal) Publisher：Journal of Clinical Immunology

Background: IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there are no comprehensive reports of treatment outcomes. Methods: We retrospectively analyzed patients with IL10RA deficiency in Japan. Results: Two newly identified and five previously reported patients were included in this study. Five patients underwent HCT; one untransplanted patient survived to age 14, and one died of influenza encephalopathy before transplantation. All five HCT recipients underwent HCT at the age before 2 years. They all were conditioned with fludarabine/busulfan- or fludarabine /melphalan-based regimens. The donor source was human leukocyte antigen haploidentical donor bone marrow (BM) for two patients and unrelated umbilical cord blood (CB) for two patients. One patient experienced graft failure with unrelated CB and required a second transplant with unrelated BM. All patients who underwent HCT survived and demonstrated an improved performance status. Conclusion: In cases of IL10RA deficiency, the need for transplantation should be promptly assessed, and early transplantation should be considered. (190/250).

DOI： 10.1007/s10875-024-01795-6

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Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH

Tomomasa, D; Tanita, K; Hiruma, Y; Hoshino, A; Kudo, K; Azumi, S; Shiota, M; Yamaoka, M; Eguchi, K; Ishimura, M; Tanaka, Y; Iwatsuki, K; Okuno, K; Hama, A; Sakamoto, KI; Taga, T; Goto, K; Ota, H; Ichiki, A; Kanda, K; Miyamura, T; Endo, S; Ohnishi, H; Sasahara, Y; Arai, A; Fornier, B; Imadome, KI; Morio, T; Latour, S; Kanegane, H

INTERNATIONAL JOURNAL OF HEMATOLOGY 120 ( 2 ) 241 - 251 2024.8 （ ISSN:0925-5710 eISSN:1865-3774 ）

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Language：English Publisher：International Journal of Hematology

When Epstein-Barr virus (EBV) infection is suspected, identification of infected cells is important to understand the pathogenesis, determinine the treatment strategy, and predict the prognosis. We used the PrimeFlow™ RNA Assay Kit with a probe to detect EBV-encoded small RNAs (EBERs) and multiple surface markers, to identify EBV-infected cells by flow cytometry. We analyzed a total of 24 patients [11 with chronic active EBV disease (CAEBV), 3 with hydroa vacciniforme lymphoproliferative disorder, 2 with X-linked lymphoproliferative disease type 1 (XLP1), 2 with EBV-associated hemophagocytic lymphohistiocytosis, and 6 with posttransplant lymphoproliferative disorder (PTLD)]. We compared infected cells using conventional quantitative PCR methods and confirmed that infected cell types were identical in most patients. Patients with CAEBV had widespread infection in T and NK cells, but a small amount of B cells were also infected, and infection in patients with XLP1 and PTLD was not limited to B cells. EBV-associated diseases are believed to be complex pathologies caused by EBV infecting a variety of cells other than B cells. We also demonstrated that infected cells were positive for HLA-DR in patients with CAEBV. EBER flow FISH can identify EBV-infected cells with high sensitivity and is useful for elucidating the pathogenesis.

DOI： 10.1007/s12185-024-03786-0

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Preference of treatment characteristics among people with haemophilia or their caregivers, and physicians in the Japanese healthcare environment Reviewed International journal

Fujii, T; Ishimura, M; Takao, S; Deguchi, A

HAEMOPHILIA 30 ( 4 ) 914 - 924 2024.7 （ ISSN:1351-8216 eISSN:1365-2516 ）

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Language：English Publishing type：Research paper (scientific journal) Publisher：Haemophilia

Introduction: Studies of treatment preferences in haemophilia have been conducted in many countries. This study is the first to examine treatment characteristic preferences among people with haemophilia (PWH) and their caregivers, and physicians in Japan. Aim: To examine current treatment preferences of PWH and their caregivers, plus those of physicians at haemophilia treatment centres (HTCs) and non-HTCs for different treatment characteristics in Japan. Methods: Physicians listed on a survey panel were invited to participate in the survey and to refer PWH and caregivers to participate in the survey. Web-based surveys were conducted to examine physician and PWH/caregiver background, prophylaxis background, prophylaxis goals, understanding of haemophilia treatment products, important information sources, preferences while choosing prophylaxis products, understanding of the patient's condition, and potential product switching. A discrete choice experiment exercise was included in the survey. Results: A total of 107 physicians and 44 PWH/caregivers participated in the study. Key treatment goals of physicians included optimisation of haemophilia management. PWH/caregivers were focused on quality of life and reduced treatment burden. Consistent differences in haemophilia treatment strategies at HTCs and non-HTCs were observed for prescribed treatments, preferences in choosing prophylaxis products, understanding of patients’ condition, and reasons for potential product switch. Conclusion: Our study utilises real-world survey data and presents preferences for haemophilia treatment characteristics among physicians, PWH and their caregivers in Japan, which could encourage improvements in individualised treatment and disease management. Alignment between treatment approaches at HTCs and non-HTCs could facilitate improvements in the quality of care for PWH across Japan.

DOI： 10.1111/hae.15028

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The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome. Reviewed International journal

Kentaro Nakashima, Takashi Imai, Akira Shiraishi, Ryoko Unose, Hironori Goto, Yusaku Nagatomo, Kanako Kojima-Ishii, Yuichi Mushimoto, Kei Nishiyama, Kenichiro Yamamura, Hazumu Nagata, Masataka Ishimura, Koichi Kusuhara, Yuhki Koga, Yasunari Sakai, Shouichi Ohga

Clinical and experimental immunology 217 ( 3 ) 291 - 299 2024.6 （ ISSN:0009-9104 eISSN:1365-2249 ）

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The clinical spectrum of Down syndrome (DS) ranges from congenital malformations to premature aging and early-onset senescence. Excessive immunoreactivity and oxidative stress are thought to accelerate the pace of aging in DS patients; however, the immunological profile remains elusive. We investigated whether peripheral blood monocyte-derived dendritic cells (MoDCs) in DS patients respond to lipopolysaccharide (LPS) distinctly from non-DS control MoDCs. Eighteen DS patients (age 2-47 years, 12 males) and 22 controls (age 4-40 years, 15 males) were enrolled. CD14-positive monocytes were immunopurified and cultured for 7 days in the presence of granulocyte-macrophage colony-stimulating factor and IL-4, yielding MoDCs in vitro. After the LPS-stimulation for 48 hours from days 7 to 9, culture supernatant cytokines were measured by multiplex cytokine bead assays, and bulk-prepared RNA from the cells was used for transcriptomic analyses. MoDCs from DS patients produced cytokines/chemokines (IL-6, IL-8, TNF-α, MCP-1, and IP-10) at significantly higher levels than those from controls in response to LPS. RNA sequencing revealed that DS-derived MoDCs differentially expressed 137 genes (74 upregulated and 63 downregulated) compared with controls. A gene enrichment analysis identified 5 genes associated with Toll-like receptor signaling (KEGG: hsa04620, P = 0.00731) and oxidative phosphorylation (hsa00190, P = 0.0173) pathways. MoDCs obtained from DS patients showed higher cytokine or chemokine responses to LPS than did control MoDCs. Gene expression profiles suggest that hyperactive Toll-like receptor and mitochondrial oxidative phosphorylation pathways configure the immunoreactive signature of MoDCs in DS patients.

DOI： 10.1093/cei/uxae048

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Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey Invited Reviewed International journal

Miyamoto, T; Izawa, K; Masui, S; Yamazaki, A; Yamasaki, Y; Matsubayashi, T; Shiraki, M; Ohnishi, H; Yasumura, J; Kawabe, T; Miyamae, T; Matsubara, T; Arakawa, N; Ishige, T; Takizawa, T; Shimbo, A; Shimizu, M; Kimura, N; Maeda, Y; Maruyama, Y; Shigemura, T; Furuta, J; Sato, S; Tanaka, H; Izumikawa, M; Yamamura, M; Hasegawa, T; Kaneko, H; Nakagishi, Y; Nakano, N; Iida, Y; Nakamura, T; Wakiguchi, H; Hoshina, T; Kawai, T; Murakami, K; Akizuki, S; Morinobu, A; Ohmura, K; Eguchi, K; Sonoda, M; Ishimura, M; Furuno, K; Kashiwado, M; Mori, M; Kawahata, K; Hayama, K; Shimoyama, K; Sasaki, N; Ito, T; Umebayashi, H; Omori, T; Nakamichi, S; Dohmoto, T; Hasegawa, Y; Kawashima, H; Watanabe, S; Taguchi, Y; Nakaseko, H; Iwata, N; Kohno, H; Ando, T; Ito, Y; Kataoka, Y; Saeki, T; Kaneko, U; Murase, A; Hattori, S; Nozawa, T; Nishimura, K; Nakano, R; Watanabe, M; Yashiro, M; Nakamura, T; Komai, T; Kato, K; Honda, Y; Hiejima, E; Yonezawa, A; Bessho, K; Okada, S; Ohara, O; Takita, J; Yasumi, T; Nishikomori, R

ARTHRITIS & RHEUMATOLOGY 76 ( 6 ) 949 - 962 2024.6 （ ISSN:2326-5191 eISSN:2326-5205 ）

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Language：English Publishing type：Research paper (scientific journal) Publisher：Arthritis and Rheumatology

Objective: We assess the clinical characteristics of patients with cryopyrin-associated periodic syndrome (CAPS) in Japan and evaluate the real-world efficacy and safety of interleukin-1 (IL-1) inhibitors, primarily canakinumab. Methods: Clinical information was collected retrospectively, and serum concentrations of canakinumab and cytokines were analyzed. Results: A total of 101 patients were included, with 86 and 15 carrying heterozygous germline and somatic mosaic mutations, respectively. We identified 39 mutation types, and the common CAPS-associated symptoms corresponded with those in previous reports. Six patients (5.9% of all patients) died, with four of the deaths caused by CAPS-associated symptoms. Notably, 73.7% of patients (100%, 79.6%, and 44.4% of familial cold autoinflammatory syndrome, Muckle–Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem inflammatory disease, respectively) achieved complete remission with canakinumab, and early therapeutic intervention was associated with better auditory outcomes. In some patients, canakinumab treatment stabilized the progression of epiphysial overgrowth and improved height gain, visual acuity, and renal function. However, 23.7% of patients did not achieve inflammatory remission with crucial deterioration of organ damage, with two dying while receiving high-dose canakinumab treatment. Serological analysis of canakinumab and cytokine concentrations revealed that the poor response was not related to canakinumab shortage. Four inflammatory nonremitters developed inflammatory bowel disease (IBD)—unclassified during canakinumab treatment. Dual biologic therapy with canakinumab and anti–tumor necrosis factor-α agents was effective for IBD– and CAPS-associated symptoms not resolved by canakinumab monotherapy. Conclusion: This study provides one of the largest epidemiologic data sets for CAPS. Although early initiation of anti–IL-1 treatment with canakinumab is beneficial for improving disease prognosis, some patients do not achieve remission despite a high serum concentration of canakinumab. Moreover, IBD may develop in CAPS after canakinumab treatment. (Figure presented.).

DOI： 10.1002/art.42808

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Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan(タイトル和訳中)

Ishimura Masataka, Eguchi Katsuhide, Sonoda Motoshi, Tanaka Tamami, Shiraishi Akira, Sakai Yasunari, Yasumi Takahiro, Miyamoto Takayuki, Voskoboinik Ilia, Hashimoto Kunio, Matsumoto Shirou, Ozono Shuichi, Moritake Hiroshi, Takada Hidetoshi, Ohga Shouichi

International Journal of Hematology 119 ( 5 ) 592 - 602 2024.5 （ ISSN:0925-5710 ）

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Language：English Publisher：(一社)日本血液学会
Vitamin K prophylaxis in neonates: comparing two different oral regimens. Reviewed International journal

Daijiro Takahashi, Naoki Egami, Masayuki Ochiai, Taeko Hotta, Shutaro Suga, Masataka Ishimura, Chiharu Kawaguchi, Takeshi Uchiumi, Toshiya Nishikubo, Keiji Nogami, Kei Goto, Shouichi Ohga

Journal of perinatology : official journal of the California Perinatal Association 44 ( 10 ) 1491 - 1495 2024.4 （ ISSN:0743-8346 eISSN:1476-5543 ）

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OBJECTIVE: This prospective study compared PIVKA-II and PT-INR levels in infants who received two vitamin K (VK) prophylactic regimens. METHODS: A single institution administered 119 healthy newborns 2 mg of VK syrup. Infants were assigned to a 3-time regimen (n = 56) with VK at birth, five days (5D), and 1-month-old (1 M), or a 13-time regimen (n = 63) with VK at birth, 5D, and then weekly for 11 weeks. RESULTS: The 13-time regimen significantly lowered PIVKA-II and reduced PT-INR at 1 M in both breastfed (PIVKA-II: 18-16 mAU/mL, p = 0.02; PT-INR: 1.37-1.13, p < 0.01) and formula-fed infants (PIVKA-II: 18-15 mAU/mL, p = 0.01; PT-INR: 1.54-1.24, p < 0.01), compared to baseline measurements taken at 5D. The 3-time regimen did not significantly alter PIVKA-II levels and only improved PT-INR (2.00-1.50, p < 0.01) in formula-fed infants. CONCLUSION: The 13-time VK regimen significantly enhanced coagulation profiles more effectively than the 3-time regimen.

DOI： 10.1038/s41372-024-01981-9

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Diagnostic delay of MYH9-related disorder in Japan. International journal

Atsushi Sakamoto, Toru Uchiyama, Tadashi Kaname, Akihiro Iguchi, Osamu Ohara, Masataka Ishimura, Masaei Onum, Shinji Kunishima, Akira Ishiguro

British journal of haematology 204 ( 6 ) 2400 - 2404 2024.4 （ ISSN:0007-1048 eISSN:1365-2141 ）

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MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9-RD in Japan. Our registry system will continue to contribute to this issue.

DOI： 10.1111/bjh.19484

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Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review Reviewed International journal

Higashi, K; Sonoda, Y; Kaku, N; Fujii, F; Yamashita, F; Lee, S; Tocan, V; Ebihara, G; Matsuoka, W; Tetsuhara, K; Sonoda, M; Chong, PF; Mushimoto, Y; Kojima-Ishii, K; Ishimura, M; Koga, Y; Fukuta, A; Tsuchihashi, NA; Kikuchi, Y; Karashima, T; Sawada, T; Hotta, T; Yoshimitsu, M; Terazono, H; Tajiri, T; Nakagawa, T; Sakai, Y; Nakamura, K; Ohga, S

MOLECULAR GENETICS & GENOMIC MEDICINE 12 ( 4 ) e2427 2024.4 （ ISSN:2324-9269 ）

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Language：English Publishing type：Research paper (scientific journal) Publisher：Molecular Genetics and Genomic Medicine

Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, β-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in GBA1. A combined treatment of imiglucerase with ambroxol started improving the patient's motor activity in 1 week, while it kept the long-lasting effect of preventing the deteriorating phenotype for 30 months. A literature review identified 40 patients with nGD, who had received high-dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long-lasting effect of ambroxol-based chaperone therapy for patients with an expanding spectrum of mutations in GBA1.

DOI： 10.1002/mgg3.2427

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Pretransplant ribavirin and interferon-α therapy for rhinovirus interstitial pneumonia in a RAG1-deficient infant(タイトル和訳中) Reviewed International journal

Harada Nobutaka, Sonoda Motoshi, Ishimura Masataka, Eguchi Katsuhide, Kinoshita Keishiro, Matsuoka Wakato, Motomura Yoshitomo, Kaku Noriyuki, Kawaguchi Naoki, Takeuchi Takami, Ohga Shouichi

Journal of Infection and Chemotherapy 30 ( 4 ) 362 - 365 2024.4 （ ISSN:1341-321X ）

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Authorship：Corresponding author Language：English Publishing type：Research paper (scientific journal) Publisher：エルゼビア・ジャパン(株)
Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study

Hirokazu Kanegane, Akifumi Endo, Satoshi Okada, Hidenori Ohnishi, Masataka Ishimura, Ryuta Nishikomori, Kohsuke Imai, Shigeaki Nonoyama, Hideki Muramatsu, Taizo Wada, Atsushi Kuga, Ko Sakamoto, Sharon Russo-Schwarzbaum, Liang-Hui Chu, Barbara McCoy, Zhaoyang Li, Leman Yel

Immunotherapy Advances 4 ( 1 ) ltae001 2024.3 （ eISSN:2732-4303 ）

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DOI： 10.1093/immadv/ltae001

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Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan. Reviewed International coauthorship

Masataka Ishimura, Katsuhide Eguchi, Motoshi Sonoda, Tamami Tanaka, Akira Shiraishi, Yasunari Sakai, Takahiro Yasumi, Takayuki Miyamoto, Ilia Voskoboinik, Kunio Hashimoto, Shirou Matsumoto, Shuichi Ozono, Hiroshi Moritake, Hidetoshi Takada, Shouichi Ohga

International journal of hematology 119 ( 5 ) 592 - 602 2024.3 （ ISSN:09255710 ）

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Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan. One patient with a novel PRF1 variant escaped screening, but all patients with FHLH2 reached diagnosis and 8 of them received HCT until 3 and 9 months of age, respectively. The earliest HCT was conducted 65 days after birth. Three pretransplant deaths occurred in newborns with liver failure at diagnosis. Ten posttransplant patients have remained disease-free, 7 of whom had no neurological involvement. Time from first etoposide infusion to HCT was shorter in patients without CNS disease or bleeding than in patients with those factors (median [range] days: 62 [50-81] vs. 122 [89-209], p = 0.016). Six of 9 unrelated patients had a PRF1 c.1090_1091delCT variant. These results suggest that the critical times to start etoposide and HCT are within 3 months after birth and during etoposide control, respectively. Newborn screening may increase the percentage of disease-free survivors without complications.

DOI： 10.1007/s12185-024-03721-3

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Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome. International journal

Motoshi Sonoda, Masataka Ishimura, Hirosuke Inoue, Katsuhide Eguchi, Masayuki Ochiai, Yasunari Sakai, Takehiko Doi, Kyoko Suzuki, Takeshi Inoue, Tomoyuki Mizukami, Kimitoshi Nakamura, Hidetoshi Takada, Shouichi Ohga

Pediatric blood & cancer 71 ( 3 ) e30809 2024.3 （ ISSN:1545-5009 eISSN:1545-5017 ）

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OBJECTIVE: CHARGE syndrome is a congenital malformation syndrome caused by heterozygous mutations in the CHD7 gene. Severe combined immunodeficiency (SCID) arises from congenital athymia called CHARGE/complete DiGeorge syndrome. While cultured thymus tissue implantation (CTTI) provides an immunological cure, hematopoietic cell transplantation (HCT) is an alternative option for immuno-reconstitution of affected infants. We aimed to clarify the clinical outcomes of patients with athymic CHARGE syndrome after HCT. METHODS: We studied the immunological reconstitution and outcomes of four patients who received non-conditioned unrelated donor cord blood transplantation (CBT) at Kyushu University Hospital from 2007 to 2022. The posttransplant outcomes were compared with the outcomes of eight reported patients. RESULTS: Four index cases received CBT 70-144 days after birth and had no higher than grade II acute graft-versus-host disease. One infant was the first newborn-screened athymic case in Japan. They achieved more than 500/μL naïve T cells with balanced repertoire 1 month post transplant, and survived more than 12 months with home care. Twelve patients including the index cases received HCT at a median 106 days after birth (range: 70-195 days). One-year overall survival rate was significantly higher in patients who underwent non-conditioned HCT than in those who received conditioned HCT (100% vs. 37.5%, p = .02). Nine patients died, and the major cause of death was cardiopulmonary failure. CONCLUSIONS: Athymic infants achieved a prompt reconstitution of non-skewing naïve T cells after non-conditioned CBT that led to home care in infancy without significant infections. Non-conditioned CBT is a useful bridging therapy for newborn-screened cases toward an immunological cure by CTTI.

DOI： 10.1002/pbc.30809

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電撃性紫斑病を契機に診断された新生児先天性プロテインC欠乏症眼合併症の課題

宮内雄太, 園田素史, 石村匡崇, 江口祥美, 江口克秀, 原田頌隆, 澤野徹, 井上普介, 落合正行, 大賀正一

日本小児科学会雑誌 127 ( 12 ) 1568 - 1568 2023.12

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The clinical and genetic landscape of early-onset thrombophilia in Japan. Reviewed International journal

Naoki Egami, Masataka Ishimura, Masayuki Ochiai, Masako Ichiyama, Hirosuke Inoue, Souichi Suenobu, Toshiya Nishikubo, Keiji Nogami, Akira Ishiguro, Taeko Hotta, Takeshi Uchiumi, Dongchon Kang, Shouichi Ohga

Pediatric blood & cancer 71 ( 3 ) e30824 2023.12 （ ISSN:1545-5009 eISSN:1545-5017 ）

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OBJECTIVES: To determine the optimal management for early-onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)-, protein S (PS)-, or antithrombin (AT)-deficient patients of ≤20 years of age were studied in Japan. METHODS/RESULTS: Clinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One-hundred-one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC- and PS-monoallelic variant. Fifty-five PC-deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS-deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT-biallelic variants. The frequent low-risk allele p.K193del (PC-Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low-risk allele p.K196E (PS-Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother-newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication-free survivors. Neurological complications were more frequently found in patients with PC-biallelic variants than those with PC-, PS-, or AT-monoallelic variants (73% vs. 24%, p = .019). CONCLUSIONS: We demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother-infant pairs may prevent perinatal thrombosis in them.

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Adenovirus-associated Paroxysmal Cold Hemoglobinuria as Chilly Month Hemolytic Crisis. International journal

Nobutaka Harada, Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Yoshitomo Motomura, Keiko Fujino, Shouichi Ohga

The Pediatric infectious disease journal 43 ( 4 ) e147 - e148 2023.12 （ ISSN:0891-3668 eISSN:1532-0987 ）

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DOI： 10.1097/INF.0000000000004230

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慢性肉芽腫症の臍帯血移植経過中に発症した侵襲性Schizophyllum commune感染症

矢田裕太郎, 本村良知, 江口克秀, 石村匡崇, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 55回 173 - 173 2023.11

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Pretransplant ribavirin and interferon-α therapy for rhinovirus interstitial pneumonia in a RAG1-deficient infant. International journal

Nobutaka Harada, Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Keishiro Kinoshita, Wakato Matsuoka, Yoshitomo Motomura, Noriyuki Kaku, Naoki Kawaguchi, Takami Takeuchi, Shouichi Ohga

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 30 ( 4 ) 362 - 365 2023.11 （ ISSN:1341-321X eISSN:1437-7780 ）

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Severe combined immunodeficiency (SCID) is one of the most serious inborn errors of immunity leading to a fatal infection in early infancy. Allogeneic hematopoietic cell transplantation (HCT) or elective gene therapy prior to infection or live-attenuated vaccination is the current standard of curative treatment. Even in the era of newborn screening for SCID, pretransplant control of severe infection is challenging for SCID. Multiple pathogens are often isolated from immunocompromised patients, and limited information is available regarding antiviral strategies to facilitate curative HCT. We herein present a case of successfully controlled pretransplant pneumonia after ribavirin and interferon-α therapy in an infant with RAG1-deficiency. A four-month-old infant presented with severe interstitial pneumonia due to a co-infection of rhinovirus and Pneumocystis jirovecii. The tentative diagnosis of SCID prompted to start antibiotics and trimethoprim-sulfamethoxazole on ventilatory support. Because of the progressive respiratory failure four days after treatment, ribavirin and then pegylated interferon-α were started. He showed a drastic response to the treatment that led to a curative HCT 32 days after admission. This patient received the genetic diagnosis of RAG1-deficiency. Currently, he is an active 3-year-old boy with normal growth and development. The review of literature indicated that rhinovirus had a comparable or rather greater impact on the mortality of pediatric patients than respiratory syncytial virus. Considered the turn-around time to the genetic diagnosis of SCID, prompt ribavirin plus interferon-α therapy may help to control severe rhinovirus pneumonia and led to the early curative HCT for the affected infants.

DOI： 10.1016/j.jiac.2023.11.003

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Clinical Features of Pediatric Uveitis at a Tertiary Referral Center in the Western Region of Japan. International journal

Yosuke Fukuda, Nobuyo Yawata, Eiichi Hasegawa, Satoshi Yamana, Mariko Shirane, Takako Ito, Atsunobu Takeda, Motoshi Sonoda, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Koh-Hei Sonoda

Ocular immunology and inflammation 31 ( 10 ) 1 - 7 2023.11 （ ISSN:0927-3948 eISSN:1744-5078 ）

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PURPOSE: This study aimed to assess the clinical features of pediatric uveitis at a tertiary referral center in Western Japan. METHODS: One hundred forty eyes of 80 patients aged <20 years at the time of uveitis onset, who visited Kyushu University Hospital between January 2010 and December 2019 were included in this study. Clinical records were retrospectively reviewed. Demographics, clinical findings, treatments, and visual prognoses were compared between the disease groups. RESULTS: Of 80 patients, 32 were males and 48 were females. The average age of onset was 12.5 ± 4.8 (0-19) years. Tubulointerstitial nephritis and uveitis (TINU) and juvenile idiopathic arthritis (JIA) were the most frequent causes, accounting for 11.3% and 10% of cases, respectively, followed by sarcoidosis (5%), Behçet's disease, acute anterior uveitis, Vogt-Koyanagi-Harada disease, and juvenile chronic iridocyclitis (3.8% each). Infectious uveitis accounted for 7.6% of the cases: cytomegalovirus was the most frequent agent. Of these cases, 43.8% were unclassified. Systemic therapies were administered to 87.5% of the patients with JIA, 33.3% of those with TINU, and 28.6% of the other diagnostic groups. In the unclassified group, 80% of the patients were followed up with only topical corticosteroids. LogMAR visual acuity of 0 or less accounted for more than 80% in the final examination. CONCLUSION: TINU and JIA were the most common causes of pediatric uveitis. Although each required systemic therapy, most unclassified cases of pediatric uveitis were managed by topical corticosteroids alone with good visual prognosis. Accurate diagnosis is important for pediatric uveitis management.

DOI： 10.1080/09273948.2023.2273363

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難治性皮膚免疫、アレルギー疾患若年性皮膚筋炎患者における筋炎特異的自己抗体別の臨床像と免疫学的プロファイル単一施設後ろ向き研究

朴崇娟, 園田素史, 石村匡崇, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 市村裕輝, 沖山奈緒子, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 51回 73 - 73 2023.10

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当院で小児期発症Lupus腎炎に対して使用したBelimumabの検討

末松真弥, 岩屋友香, 朴崇娟, 西山慶, 園田素史, 江口克秀, 石村匡崇, 大賀正一

日本小児リウマチ学会総会・学術集会プログラム・抄録集 32回 117 - 117 2023.10

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若年性皮膚筋炎患者における筋炎特異的自己抗体別の臨床像と免疫学的プロファイル単一施設後ろ向き研究

朴崇娟, 園田素史, 石村匡崇, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 市村裕輝, 沖山奈緒子, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 51回 81 - 81 2023.10

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若年性皮膚筋炎患者における筋炎特異的自己抗体別の臨床像と免疫学的プロファイル単一施設後ろ向き研究

朴崇娟, 園田素史, 石村匡崇, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 市村裕輝, 沖山奈緒子, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 51回 81 - 81 2023.10

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難治性皮膚免疫、アレルギー疾患若年性皮膚筋炎患者における筋炎特異的自己抗体別の臨床像と免疫学的プロファイル単一施設後ろ向き研究

朴崇娟, 園田素史, 石村匡崇, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 市村裕輝, 沖山奈緒子, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 51回 73 - 73 2023.10

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Heterogeneity and mitochondrial vulnerability configurate the divergent immunoreactivity of human induced microglia-like cells. International journal

Kousuke Yonemoto, Fumihiko Fujii, Ryoji Taira, Masahiro Ohgidani, Katsuhide Eguchi, Sayaka Okuzono, Yuko Ichimiya, Yuri Sonoda, Pin Fee Chong, Hironori Goto, Hikaru Kanemasa, Yoshitomo Motomura, Masataka Ishimura, Yuhki Koga, Keita Tsujimura, Takao Hashiguchi, Hiroyuki Torisu, Ryutaro Kira, Takahiro A Kato, Yasunari Sakai, Shouichi Ohga

Clinical immunology (Orlando, Fla.) 255 109756 - 109756 2023.10 （ ISSN:1521-6616 eISSN:1521-7035 ）

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Microglia play versatile roles in progression of and protection against neuroinflammatory diseases. Little is known, however, about the mechanisms underlying the diverse reactivity of microglia to inflammatory conditions. We investigated how human induced microglia-like (iMG) cells respond to innate immune ligands. Quantitative PCR showed that poly-I:C and lipopolysaccharide (LPS) activated the expression of IL1B and TNF. Immunoreactivity of iMG did not differ between controls (n = 11) and patients with neuroinflammatory diseases (n = 24). Flow cytometry revealed that CD14high cells expressed interleukin (IL) -1β after LPS treatment. Immunoblotting showed that poly-I:C and LPS differentially activated inflammatory pathways but commonly induced mitochondrial instability and the expression of pyruvate kinase isoform M2 (PKM2). Furthermore, a potent stimulator of PKM2 (DASA-58) alleviated IL-1β production after LPS treatment. These data indicate that heterogeneous cell populations and mitochondrial stability underlie the divergent immunoreactivity of human iMG in environments.

DOI： 10.1016/j.clim.2023.109756

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Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study Reviewed International journal

Kanegane, H; Ishimura, M; Kawai, T; Okada, S; Okamatsu, N; Go, M; Noto, S

FRONTIERS IN IMMUNOLOGY 14 1244250 2023.9 （ ISSN:1664-3224 ）

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Introduction: Primary immunodeficiency diseases (PIDs) are rare inherited diseases resulting in impaired immunity. People with PID experience lower health-related quality of life (HR-QOL) and disease-related burdens in daily activities. This ongoing, prospective observational study aims to evaluate disease activity, treatment status, treatment-related burden, daily activities, and HR-QOL in patients with PID in Japan over a 1-year period. In this interim report (database lock: July 29, 2022), we present baseline results. Methods: Participants were enrolled between November 2021 and May 2022; data were collected four times/year per participant until May 2023 using an online electronic patient-reported outcomes system. Patients with PID and healthy volunteers aged ≥12 years, residing in Japan, and with access to a smartphone were eligible. HR-QOL (primary endpoint) was assessed by the EuroQol-5 Dimensions-5 Levels (EQ-5D-5L) and the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). Work productivity was assessed by the Work Productivity and Activity Impairment (WPAI) Questionnaire. Other aspects of PID and burden were assessed with a new questionnaire developed in-house. The study is registered at the University hospital Medical Information Network clinical trials registry (UMIN000045622). Results: The full interim analysis set comprised 71 patients with PID and 47 healthy volunteers. The most common International Union of Immunological Societies PID category was primary antibody deficiency (56.3% of patients). Complications were common, especially recurrent respiratory tract infections (63.4%). Most patients with PID were treated with immunoglobulin replacement therapy (73.2%); 22.4% of these patients had serum immunoglobulin levels <700 mg/dL. Among patients who did not undergo hematopoietic cell transplantation, EQ-5D-5L (n=67) and SF-36 (n=59) Physical and Mental Component Summary scores were significantly lower than in healthy volunteers (p < 0.001). WPAI absenteeism, work productivity loss, and activity impairment scores were significantly lower in 42 working patients with PID than in 37 working healthy volunteers (p < 0.05). Other results indicated that patients with PID experience substantial burdens related to medical visits, expenses, work, and daily activities. Discussion: This interim analysis confirms that patients with PID in Japan have lower HR-QOL and work productivity compared with healthy individuals and experience substantial limitations and burdens in their daily lives.

DOI： 10.3389/fimmu.2023.1244250

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栓友病と遺伝性血栓性素因母子を守る個別医療へ

大賀正一, 江上直樹, 堀田多恵子, 内海健, 落合正行, 石村匡崇

臨床血液 64 ( 9 ) 1131 - 1136 2023.9

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小児血栓症患者における遺伝素因の報告が増えている。小児期は年齢ごとに発症リスクが異なり,遺伝素因の寄与度も様々である。20歳までに発症する血栓症のうち遺伝素因が関与するものを"早発型遺伝性血栓症(early-onset thrombophilia,EOT)"として登録し,網羅的文献検索と併せて本邦患者の遺伝的背景と臨床経過を明らかにした。患者の60%以上をプロテインC(PC)欠乏症が占め,その半分以上が片アレル変異の保有者だった。年齢とともにプロテインS(PS)およびアンチトロンビン欠乏症が増加して主体となった。6～8歳の発症はなかった。日本人高頻度・低リスクバリアントのPC-TottoriとPS-Tokushimaも確認されたが,前者は重症PC欠乏症の発症に寄与していなかった。解析した32家系中de novo発症は1家系のみで,周産期の同時発症母子例が3家系あった。PC欠乏症を標的に適切なEOTスクリーニングを行って周産期血栓症から母子を守ることが期待される。(著者抄録)
【匠から学ぶ血栓止血検査ガイド】(5章)疾患まとめ小児領域のDIC

江上直樹, 落合正行, 石村匡崇, 大賀正一

検査と技術 51 ( 9 ) 1101 - 1105 2023.9

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Critical diseases in neonates after discharge home from birth hospital: A retrospective study from a tertiary hospital in Japan. International journal

Junko Fujiyoshi, Hirosuke Inoue, Toru Sawano, Yuichi Mushimoto, Yoshitomo Motomura, Kei Nishiyama, Noriyuki Kaku, Hazumu Nagata, Kenichiro Yamamura, Masataka Ishimura, Yuhki Koga, Masayuki Ochiai, Yasunari Sakai, Tatsuro Tajiri, Shouichi Ohga

Early human development 186 105869 - 105869 2023.9 （ ISSN:0378-3782 eISSN:1872-6232 ）

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INTRODUCTION: To establish actionable neonatal screening during the first month of life, we investigated critical diseases in seemingly healthy newborns discharged from birth hospitals. METHODS: This retrospective study enrolled previously healthy full-term infants who visited our hospital, a tertiary hospital in Japan, from home between 5 and 28 days after birth from 2009 to 2018. Infants with known perinatal or congenital diseases, positive newborn screening results, or accidental injuries were excluded. Data were collected from electronic medical records, including principal diagnosis, clinical details, and prognosis at 18 months of age. RESULTS: Ninety-seven (58 %) of 168 eligible neonates were admitted to the hospital, and 71 (42 %) were not. The median admission rate in patients with disease onset at ≤14 days after birth (80 %) was significantly higher than that in patients with disease onset at ≥15 days (42 %). Among 45 patients who received intensive medical care, 5 died and 10 developed neurodevelopmental sequelae. Four of 5 patients died by 100 days. Among 25 diseases treated in intensive care unit, 17 (68 %) diseases had a prevalence of <1 per 2000 live births. The commonly used diagnostic methods were imaging (n = 58, 35 %) and physical examination (n = 34, 20 %). CONCLUSION: Critical diseases due to rare and heterogeneous causes in ostensibly healthy newborns occurred predominantly in the first two weeks of life. Optimal newborn screening and health check-up protocols may benefit from the wide spectrum of life-threatening diseases occurring in home after birth.

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Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity. International journal

Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, Masataka Ishimura, Kazushi Izawa, Takaki Asano, Fumihiko Kakuta, Daiki Abukawa, Darawan Rinchai, Peng Zhang, Naotomo Kambe, Aziz Bousfiha, Takahiro Yasumi, Bertrand Boisson, Anne Puel, Jean-Laurent Casanova, Ryuta Nishikomori, Shouichi Ohga, Satoshi Okada, Yoji Sasahara, Shigeo Kure

The Journal of experimental medicine 220 ( 9 ) 2023.9 （ ISSN:0022-1007 eISSN:1540-9538 ）

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Inborn errors of the NF-κB pathways underlie various clinical phenotypes in humans. Heterozygous germline loss-of-expression and loss-of-function mutations in RELA underlie RELA haploinsufficiency, which results in TNF-dependent chronic mucocutaneous ulceration and autoimmune hematological disorders. We here report six patients from five families with additional autoinflammatory and autoimmune manifestations. These patients are heterozygous for RELA mutations, all of which are in the 3' segment of the gene and create a premature stop codon. Truncated and loss-of-function RelA proteins are expressed in the patients' cells and exert a dominant-negative effect. Enhanced expression of TLR7 and MYD88 mRNA in plasmacytoid dendritic cells (pDCs) and non-pDC myeloid cells results in enhanced TLR7-driven secretion of type I/III interferons (IFNs) and interferon-stimulated gene expression in patient-derived leukocytes. Dominant-negative mutations in RELA thus underlie a novel form of type I interferonopathy with systemic autoinflammatory and autoimmune manifestations due to excessive IFN production, probably triggered by otherwise non-pathogenic TLR ligands.

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脾膿瘍の病勢評価における高周波プローブを用いた超音波検査の重要性 Reviewed

井形優平, 西間大祐, 森さよ, 鷲尾真美, 丸山裕司, 江口克秀, 石村匡崇, 武本環美

共済医報 72 ( 3 ) 262 - 268 2023.8 （ ISSN:0454-7586 ）

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脾膿瘍は稀な疾患で,発熱,腹痛,左上腹部圧痛,白血球増多などを来すが,その非特異性から診断に至るのが難しい.今回,生来健康な男児の多発性脾膿瘍を経験した.症例は10歳男児.発熱,腹痛があり,虫垂炎または腸炎として抗菌薬加療を行ったが,2週間後に再度発熱,腹痛を認め,造影CT検査で脾臓腫大および脾内に多発する低吸収域を認めた.原因精査で免疫不全や真菌感染症,結核等は否定的で,細菌性多発性脾膿瘍と診断した.脾膿瘍治療開始後の病勢評価は超音波検査で行った.コンベックス型プローブでは脾臓腫大のみの所見しか得られなかったが,高周波であるリニア型プローブでは脾内に低エコー域が観察された.臨床症状や血液検査所見が改善しMRI検査で所見が消失後も,超音波検査では低エコー域の残存を確認することができ,脾膿瘍の病勢評価に超音波検査が特に重要であると考えられた.(著者抄録)
免疫不全を伴う無汗性外胚葉形成異常症と色素失調症を合併したNEMO異常症男児におけるB細胞の復帰と皮膚モザイク現象の解析

園田素史, 石村匡崇, 緒方怜奈, 松岡若利, 山下文也, 江口克秀, 大賀正一

臨床血液 64 ( 7 ) 693 - 694 2023.7

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Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency. Invited Reviewed International journal

Motoshi Sonoda, Masataka Ishimura, Reina Ogata, Hirotsugu Oda, Shouichi Ohga

Journal of clinical immunology 43 ( 8 ) 1743 - 1746 2023.7 （ ISSN:0271-9142 eISSN:1573-2592 ）

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DOI： 10.1007/s10875-023-01543-2

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健常児として自宅退院した新生児に発症した重篤な疾患の検討

藤吉順子, 井上普介, 澤野徹, 虫本雄一, 本村良知, 賀来典之, 永田弾, 山村健一郎, 石村匡崇, 古賀友紀, 落合正行, 酒井康成, 大賀正一, 永田公二, 田尻達郎

日本小児科学会雑誌 127 ( 7 ) 1015 - 1015 2023.7

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Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn

Shirozu, H; Ichiyama, M; Ishimura, M; Ayako, K; Egami, N; Dongchon, K; Nakano, T; Sagawa, K; Ohga, S

AJP REPORTS 13 ( 03 ) E44 - E48 2023.7 （ ISSN:2157-6998 eISSN:2157-7005 ）

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Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase (MTHFR) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.

DOI： 10.1055/a-2101-7738

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当院での小児期発症ループス腎炎に対するBelimumab治療の経験

末松真弥, 岩屋友香, 西山慶, 園田素史, 江口克秀, 石村匡崇, 大賀正一

日本小児腎臓病学会雑誌 36 ( Suppl. ) 105 - 105 2023.5

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電撃性紫斑病を契機に診断された新生児先天性プロテインC欠乏症の女児例眼合併症の課題

宮内雄太, 園田素史, 石村匡崇, 江口祥美, 江口克秀, 原田頌隆, 澤野徹, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 33 ( 1 ) S - 32 2023.5

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ロタウイルスワクチン接種後に発症したRAG1欠損症の1例

原田頌隆, 園田素史, 石村匡崇, 江口克秀, 木下恵志郎, 本村良知, 大賀正一, 松岡若利, 賀来典之

日本小児科学会雑誌 127 ( 5 ) 782 - 782 2023.5

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Graft-versus-host disease-free, relapse-free, second transplant-free survival in allogeneic hematopoietic cell transplantation for genetic disorders

Kawaguchi, K; Umeda, K; Miyamoto, S; Yoshida, N; Yabe, H; Koike, T; Kajiwara, M; Kawaguchi, H; Takahashi, Y; Ishimura, M; Sakaguchi, H; Hama, A; Cho, Y; Sato, M; Kato, K; Sato, A; Kato, K; Tabuchi, K; Atsuta, Y; Imai, K

BONE MARROW TRANSPLANTATION 58 ( 5 ) 600 - 602 2023.5 （ ISSN:0268-3369 eISSN:1476-5365 ）

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DOI： 10.1038/s41409-023-01937-1

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Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome. Reviewed International journal

Atsushi Tanaka, Yoshiaki Sakaguchi, Hirosuke Inoue, Naoki Egami, Yuri Sonoda, Motoshi Sonoda, Masataka Ishimura, Masayuki Ochiai, Taeko Hotta, Takeshi Uchiumi, Yasunari Sakai, Shouichi Ohga

Pediatric blood & cancer 70 ( 4 ) e30047 2023.4 （ ISSN:1545-5009 eISSN:1545-5017 ）

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DOI： 10.1002/pbc.30047

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血栓性素因スクリーニングの臨床的意義新生児血栓症の全国調査からの洞察

江上直樹, 落合正行, 市山正子, 井上普介, 園田素史, 石村匡崇, 堀田多恵子, 内海健, 康東天, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 2 ) 51 - 58 2023.3

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新生児期の血栓症は希少な事例と考えられてきたが、医療の高度化と疾患認識の広がりにより報告数が増加している。さらに、日本人小児の血栓性素因における遺伝性プロテインC欠乏症の重要性が示されてきた。今回私たちは新生児血栓症の全国調査を行い、遺伝性プロテインC欠乏症の遺伝学的効果と、遺伝学的検査の悉皆性を示すことができた。今後は調査対象を小児から成人に達するまでに拡大し、小児患者とその家族を血栓症から守る個別化医療の確立を目指す。(著者抄録)
血栓性素因スクリーニングの臨床的意義新生児血栓症の全国調査からの洞察

江上直樹, 落合正行, 市山正子, 井上普介, 園田素史, 石村匡崇, 堀田多恵子, 内海健, 康東天, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 2 ) 51 - 58 2023.3

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新生児期の血栓症は希少な事例と考えられてきたが、医療の高度化と疾患認識の広がりにより報告数が増加している。さらに、日本人小児の血栓性素因における遺伝性プロテインC欠乏症の重要性が示されてきた。今回私たちは新生児血栓症の全国調査を行い、遺伝性プロテインC欠乏症の遺伝学的効果と、遺伝学的検査の悉皆性を示すことができた。今後は調査対象を小児から成人に達するまでに拡大し、小児患者とその家族を血栓症から守る個別化医療の確立を目指す。(著者抄録)
Plasma-derived factor VIIa and factor X mixture agent (MC710) prophylaxis in haemophilia B patients with inhibitors Reviewed International journal

Sakai, M; Amano, K; Chin, M; Takedani, H; Ishida, H; Sakashita, K; Taki, M; Migita, M; Watanabe, H; Ishimura, M; Nogami, K; Harano, S; Shirahata, A

HAEMOPHILIA 29 ( 2 ) 456 - 465 2023.3 （ ISSN:1351-8216 eISSN:1365-2516 ）

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Introduction: Haemophilia B patients with factor IX inhibitors have particularly unmet needs for conventional therapy. Aim: Phase II/III clinical trial, multicentre, open-label, prospective, self-controlled study was conducted to assess MC710 prophylaxis in haemophilia B patients with inhibitors. Methods: We enrolled haemophilia patients who had received episodic or prophylactic treatment with bypassing agents up to that time. The participants continued their conventional therapy for 24 weeks and then MC710 was prophylactically infused intravenously every 2 or 3 days at 60 to 120 μg as FVIIa per kilogram of body weight for 24 weeks. The primary endpoint was the annual bleeding rate (ABR) requiring bypassing agents, which was compared intraindividually between the conventional therapy period and the MC710 prophylaxis period. Results: A total of 11 male haemophilia B patients were enrolled. The median ABR ratio for each participant (the prophylaxis period ABR divided by the conventional therapy period ABR) was.33 (2.1/6.5), range from.00 to 3.77. ABR ratios for 9 of the 11 patients ranged from.00 to.60, and 3 of the 9 patients had zero bleeding events during the prophylaxis period. Meanwhile, ABR ratios for the remaining two patients were 2.53 and 3.77, respectively. Although a fibrinogen decrease recovered by the dose reduction was reported for only one participant as the sole adverse drug reaction in this study, no thrombotic events or other safety concerns were reported. Conclusion: MC710 prophylaxis is considered to be decrease the bleeding rate in haemophilia B patients with inhibitors without safety concerns.

DOI： 10.1111/hae.14710

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Hypoplastic crisis in hereditary spherocytosis associated with Kawasaki disease

Kobushi, H; Ishimura, M; Fukuoka, S; Ohga, S

PEDIATRICS AND NEONATOLOGY 64 ( 2 ) 225 - 226 2023.3 （ ISSN:1875-9572 eISSN:2212-1692 ）

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DOI： 10.1016/j.pedneo.2022.09.012

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Case report: The altered rate of monocytic cell death in a patient of Muckle-Wells syndrome with atypical clinical course

Murakawa, S; Yoneda, T; Hoshina, T; Ishimura, M; Kusuhara, K

FRONTIERS IN PEDIATRICS 11 1133097 2023.2 （ ISSN:2296-2360 ）

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Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused by NLRP3 gene mutation. It often takes a long time before the diagnosis is made because the clinical presentation of MWS is variable. We report a pediatric case who had had persistently elevated serum C-reactive protein (CRP) level since infancy and was diagnosed with MWS by the development of sensorineural hearing loss in school age. The patient had no periodic symptoms of MWS until the development of sensorineural hearing loss. It is important to differentiate MWS in patients with persistent serum CRP elevation, even if no periodic symptoms, including fever, arthralgia, myalgia and rash, are observed. Furthermore, in this patient, lipopolysaccharide (LPS)-induced monocytic cell death occurred, but to a lesser degree than has been reported in patients with chronic infantile neurological cutaneous, and articular syndrome (CINCA). Because CINCA and MWS are phenotypic variants on the same clinical spectrum, this suggests that a further large-scale study is desired to investigate the association between degree of monocytic cell death and disease severity in CAPS patients.

DOI： 10.3389/fped.2023.1133097

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感染を契機に発症する免疫疾患感染を契機に発症する血球貪食性リンパ組織球症その素因と誘因

大賀正一, 江口克秀, 園田素史, 石村匡崇

日本小児科学会雑誌 127 ( 2 ) 164 - 164 2023.2

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【その道のプロの経験から学ぶ小児診療のピットフォール】血液疾患・悪性腫瘍

加藤稚子, 園田素史, 石村匡崇, 古賀友紀, 大賀正一

小児科 64 ( 2 ) 118 - 123 2023.2

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＜文献概要＞小児の血液疾患・悪性腫瘍は,日常診療においてありふれた症状や所見で発症し,感染症として治療を開始されることが多い.通常と異なる経過や長引く場合には,必ずこれらを鑑別に挙げて速やかに診療を進める.確定診断には専門施設での特殊検査が必要な場合もある.とくにOncologic/Hematologic emergencyの場合は,専門施設での治療開始までにかかる時間が予後を大きく左右する.非典型的な症状や経過を呈する例もあるが,他科との連携や遺伝子解析の進歩から,迅速で正確な診断を行う環境も整ってきた.近年のゲノム医療の実装を最大限に活用しながら,病態を正しく理解して,患者それぞれに最適な治療を選択していく必要がある.
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants. Reviewed International journal

Hiromi Tobai, Mikiya Endo, Masataka Ishimura, Kunihiko Moriya, Jun Yano, Keita Kanamori, Norio Sato, Fumitaka Amanuma, Hidekazu Maruyama, Hideki Muramatsu, Junji Shibahara, Masami Narita, Seiko Fumoto, Daniel Peltier, Shouichi Ohga

Pediatric blood & cancer 70 ( 6 ) e30250 2023.2 （ ISSN:1545-5009 eISSN:1545-5017 ）

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DOI： 10.1002/pbc.30250

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Williamsia muralis bacteraemia in a patient with Fanconi anaemia after haematopoietic cell transplantation. Reviewed International coauthorship International journal

Motoshi Sonoda, Yoshitomo Motomura, Masataka Ishimura, Shunsuke Kanno, Makiko Kiyosuke, Shouichi Ohga

Access microbiology 5 ( 12 ) 2023

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INTRODUCTION: Williamsia muralis is an environmental bacterium first detected in 1999. Infections with W. muralis isolated have been reported in two elderly patients, and were associated with the surgical intervention of artificial objects. We present a case of bacteraemia caused by W. muralis following haematopoietic cell transplantation (HCT). CASE PRESENTATION: A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the blood cultures after 5 days incubation. 16S rRNA sequencing, but not mass spectrometry, identified a strain of W. muralis (1 414 bp, %ID 100 %). The phlegmon did not respond to antimicrobial therapy, but remitted with defervescence after a successful engraftment with teicoplanin and meropenem therapy on day 16 after HCT. The patient experienced recurrence of the bacteraemia, leading to central venous catheter (CVC) line removal. The same strain of W. muralis was isolated from the cultured tip of the CVC. To our knowledge, this is the first reported case of W. muralis bacteraemia and was complicated by CVC infection after HCT. CONCLUSION: W. muralis bacteraemia developed in an immunocompromised child. Introduction of artificial objects into the body raises a risk of rare infection with slowly growing environmental bacteria.

DOI： 10.1099/acmi.0.000679.v3

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スナップショット興味深い!症例を画像から学ぶ(第1回) プロテインC欠乏症

江上直樹, 落合正行, 石村匡崇, 大賀正一

12 ( 4 ) 299 - 301 2022.12

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A familial case of B-cell expansionwith NF-κB and T-cell anergy caused by a G123D heterozygous missensemutation in the CARD11 gene Reviewed International journal

Takase, Y; Tanioka, S; Ishimura, M; Yoshiura, KI; Mori, Y; Sakaida, E; Funakoshi, Y; Moriuchi, H

PEDIATRIC BLOOD & CANCER 69 ( 12 ) e29941 2022.12 （ ISSN:1545-5009 eISSN:1545-5017 ）

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B-cell expansion with NF-κB (nuclear factor-kappa B) and T-cell anergy (BENTA) is a rare congenital lymphoproliferative disorder caused by germline gain-of-function mutations in the CARD11 gene. We herein report a familial case of BENTA due to a G123D heterozygous missense mutation in CARD11 inherited by a male from his mother. The mother's clinical course was characterized by polyarthritis and encephalitis in young adulthood, suggesting that autoimmune-like manifestations can occur in BENTA. The B-cell lymphocytosis and splenomegaly seen in her child have been managed with prednisolone and tacrolimus. Further investigations are needed to evaluate the efficacy of calcineurin inhibitors for BENTA.

DOI： 10.1002/pbc.29941

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Phase II Study of a JAK1/2 Inhibitor Ruxolitinib for Systemic Chronic Active Epstein-Barr Virus Disease: An Investigator-Initiated Trial Invited Reviewed International journal

Uemura, Y; Yamamoto, M; Ishimura, M; Kanegane, H; Sawada, A; Hirakawa, A; Imadome, KI; Yoshimori, M; Nagata, M; Shimizu, N; Koike, R; Arai, A

BLOOD 140 6571 - 6572 2022.11 （ ISSN:0006-4971 eISSN:1528-0020 ）

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DOI： 10.1182/blood-2022-168565

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海外渡航歴がなく診断に難渋したアメーバ赤痢の1歳児例

花木由香, 奥園清香, 金政光, 本村良知, 石村匡崇, 大賀正一

小児感染免疫 34 ( 4 ) 271 - 276 2022.11

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アメーバ赤痢はEntamoeba histolyticaによる感染症で,血便を呈する疾患の一つである.主に途上国で不衛生による水系感染をきたすが,日本では海外渡航歴のないアメーバ赤痢の小児例はまれである.今回われわれは,持続する血便を呈し,診断確定までに1年間要した海外渡航歴のないアメーバ赤痢の1歳児例を経験したので報告する.症例は1歳5ヵ月から鮮血便が持続し,便培養で有意菌は検出されなかった.下部消化管内視鏡で上行結腸から直腸に連続するリンパ濾胞様の隆起と多発するアフタ様びらんおよび潰瘍を認めた.食物蛋白誘発胃腸炎,超早期発症型炎症性腸疾患などを念頭に精査を進めたが診断に至らなかった.他に随伴症状はなく全身状態良好であったが,血便は持続し,貧血と低ガンマグロブリン血症を合併した.発症1年後に再検した下部消化管の生検病理でアメーバ赤痢と診断し,メトロニダゾール内服が奏効した.海外渡航歴や家族内感染はなく,感染経路は特定できなかった.アメーバ赤痢は日本人の乳幼児にはまれであり,診断に有用な検査は容易ではなく保険収載の問題もあり診断に難渋した.(著者抄録)
Rhinovirus感染症に対しリバビリンとインターフェロンαの併用療法下で造血細胞移植を行なった重症複合免疫不全症の乳児例

原田頌隆, 本村良知, 園田素史, 石村匡崇, 江口克秀, 木下恵志郎, 松岡若利, 賀来典之, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 54回 203 - 203 2022.11

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Rhinovirus感染症に対しリバビリンとインターフェロンαの併用療法下で造血細胞移植を行なった重症複合免疫不全症の乳児例

原田頌隆, 本村良知, 園田素史, 石村匡崇, 江口克秀, 木下恵志郎, 松岡若利, 賀来典之, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 54回 203 - 203 2022.11

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海外渡航歴がなく診断に難渋したアメーバ赤痢の1歳児例 Reviewed

花木由香, 奥園清香, 金政光, 本村良知, 石村匡崇, 大賀正一

小児感染免疫 34 ( 4 ) 271 - 276 2022.11 （ ISSN:0917-4931 ）

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Language：Japanese Publishing type：Research paper (scientific journal) Publisher：(一社)日本小児感染症学会

アメーバ赤痢はEntamoeba histolyticaによる感染症で,血便を呈する疾患の一つである.主に途上国で不衛生による水系感染をきたすが,日本では海外渡航歴のないアメーバ赤痢の小児例はまれである.今回われわれは,持続する血便を呈し,診断確定までに1年間要した海外渡航歴のないアメーバ赤痢の1歳児例を経験したので報告する.症例は1歳5ヵ月から鮮血便が持続し,便培養で有意菌は検出されなかった.下部消化管内視鏡で上行結腸から直腸に連続するリンパ濾胞様の隆起と多発するアフタ様びらんおよび潰瘍を認めた.食物蛋白誘発胃腸炎,超早期発症型炎症性腸疾患などを念頭に精査を進めたが診断に至らなかった.他に随伴症状はなく全身状態良好であったが,血便は持続し,貧血と低ガンマグロブリン血症を合併した.発症1年後に再検した下部消化管の生検病理でアメーバ赤痢と診断し,メトロニダゾール内服が奏効した.海外渡航歴や家族内感染はなく,感染経路は特定できなかった.アメーバ赤痢は日本人の乳幼児にはまれであり,診断に有用な検査は容易ではなく保険収載の問題もあり診断に難渋した.(著者抄録)

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移植後に長期免疫再構築不全を呈したCD3Δ欠損症兄弟に対する造血細胞再移植

朴崇娟, 江口克秀, 石村匡崇, 足立俊一, 木下恵志郎, 園田素史, 高田英俊, 大賀正一

日本小児血液・がん学会雑誌 59 ( 4 ) 332 - 332 2022.10

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Post-transplant Schizophyllum commune abscess in a pediatric patient with chronic granulomatous disease. Reviewed International journal

Yutaro Yada, Akira Shiraishi, Masataka Ishimura, Katsuhide Eguchi, Yoshitomo Motomura, Yasushi Kibe, Katsuhiko Kamei, Shouichi Ohga

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 29 ( 2 ) 219 - 222 2022.10 （ ISSN:1341-321X eISSN:1437-7780 ）

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Schizophyllum commune is a widely distributed basidiomycete fungus that occasionally causes sinusitis or allergic bronchopulmonary mycosis. The invasive infection mostly occurs in immunocompromised adults. The number of reports on S. commune infection have increased in this decade due to the expansion of diagnostic techniques and awareness in clinical practice. However, S.commune infection in patients with primary immunodeficiencies has not been reported yet. Here, we described S. commune-abscesses developed in the brain and lung of a boy with chronic granulomatous disease (CGD) after allogenic hematopoietic cell transplantation (HCT). A 12-year-old CGD patient developed febrile neutropenia from day 4 after HCT, followed by chest pain on day 23. He had no obvious infection before HCT. Diagnostic imaging revealed disseminated lung and brain abscesses. He received administration of voriconazole, and his symptoms improved after engraftment. Chronic administration of voriconazole had also a favorable therapeutic response to brain lesion. A part of the fungus ball exhaled by the patient was cultured to develop a filamentous fungus. S. commune was identified by the analysis of the 28S rRNA gene. The catalase test was positive for S. commune, indicating that S. commune had virulence in this patient with CGD. The assessment of specific-IgG to S. commune suggested peri-transplant infection, although colonization was not excluded. This rare pediatric case of S. commune infection highlights that CGD patients are vulnerable to invasive infection, especially when undergoing HCT.

DOI： 10.1016/j.jiac.2022.10.015

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治療抵抗性SAPHO症候群に対してJAK阻害剤を導入した3例の治療経過および免疫学的プロファイルの解析

園田素史, 石村匡崇, 朴崇娟, 原田頌隆, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 大賀正一

日本小児リウマチ学会総会・学術集会プログラム・抄録集 31回 138 - 138 2022.10

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治療抵抗性SAPHO症候群に対してJAK阻害剤を導入した3例の治療経過および免疫学的プロファイルの解析

園田素史, 石村匡崇, 朴崇娟, 原田頌隆, 足立俊一, 木下恵志郎, 矢田裕太郎, 江口克秀, 白石暁, 大賀正一

日本小児リウマチ学会総会・学術集会プログラム・抄録集 31回 183 - 183 2022.10

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移植後に長期免疫再構築不全を呈したCD3Δ欠損症兄弟に対する造血細胞再移植

朴崇娟, 江口克秀, 石村匡崇, 足立俊一, 木下恵志郎, 園田素史, 高田英俊, 大賀正一

日本小児血液・がん学会雑誌 59 ( 4 ) 332 - 332 2022.10

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A randomised, double-blind, placebo-controlled phase III trial on the efficacy and safety of tocilizumab in patients with familial Mediterranean fever Reviewed International journal

Koga T., Sato S., Hagimori N., Yamamoto H., Ishimura M., Yasumi T., Kirino Y., Ikeda K., Yachie A., Migita K., Kishida D., Atsumi T., Kawakami A.

Clinical and Experimental Rheumatology 40 ( 8 ) 1535 - 1542 2022.8 （ ISSN:0392856X ）

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Objective To evaluate the efficacy and safety of tocilizumab (TCZ), an interleukin 6 receptor monoclonal antibody, in a subset of Japanese patients with familial Mediterranean fever (FMF). Methods We performed a double-blind, randomised, parallel-group trial, followed by an open-label extension trial, in patients with colchicine-resistant or -intolerant FMF (crFMF) (UMIN000028010). Patients were randomly assigned (1:1) to receive TCZ (162 mg every week) or placebo, administered subcutaneously, for 24 weeks. Rescue treatment was allowed if the rescue criteria were met. The primary endpoint was the number of fever attacks over the 24 weeks of treatment. Secondary endpoints included the frequency of accompanying symptoms during attacks, serum CRP and SAA values, and adverse events (AEs). The open-label extension study evaluated the long-term safety and efficacy of TCZ in patients who had completed the preceding study (UMIN000032557). Results We randomly assigned 23 patients to either TCZ (n=1) or placebo (n=12). The TCZ-placebo rate ratios were 0.691 (95% confidence intervals (CI), 0.189-2.531; p=0.577) for the fever attacks, based on the group rates per week. The recurrence of attacks was significantly lower in the TCZ group (hazard ratio = 0.457; 95% CI, 0.240-0.869). Fever attacks, accompanying symptoms, serum CRP and SAA values were controlled in most of the patients who received long-term TCZ. In these trials, the numbers and severity of AEs did not differ between groups. Conclusion Although a primary endpoint was not met in the preceding trial, long-term administration of TCZ showed stable efficacy and safety for patients with crFMF.

DOI： 10.55563/clinexprheumatol/fgx9vv

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左心低形成症候群、完全型DiGeorge症候群、およびプロテインC欠乏症を合併したCHARGE症候群

坂口嘉彬, 田中惇史, 園田素史, 井上普介, 石村匡崇, 永田弾, 落合正行, 酒井康成, 大賀正一

日本小児科学会雑誌 126 ( 7 ) 1087 - 1087 2022.7

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【徹底ガイドDICのすべて 2022-'23】基礎病態と治療新生児・小児

落合正行, 石村匡崇, 大賀正一

救急・集中治療 34 ( 2 ) 830 - 836 2022.7

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＜ここがポイント!＞▼DICの基本的病態は、新生児・小児と成人とは相違ない。▼新生児・小児の凝固線溶機能は、生理的成熟過程においてDICの感受性が変化する。▼新生児期および小児期におけるDICの契機となる要因は成人と異なる。▼わが国では新生児DICのための診断・治療指針が策定されている。▼新生児と小児の早期かつ正確な診断には、採血方法や検査項目の選択が重要である。▼進行が速い新生児DICに適切に対応するため、治療戦略の標準化が課題である。(著者抄録)
JIAに対する生物学的製剤はCOVID-19の増悪因子となるか

足立俊一, 園田素史, 石村匡崇, 江口克秀, 本村良知, 大賀正一

日本小児科学会雑誌 126 ( 6 ) 983 - 983 2022.6

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JIAに対する生物学的製剤はCOVID-19の増悪因子となるか

足立俊一, 園田素史, 石村匡崇, 江口克秀, 本村良知, 大賀正一

日本小児科学会雑誌 126 ( 6 ) 983 - 983 2022.6

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乳児期に致死的経過を辿る原発性免疫不全症に対する早期診断の重要性と課題

足立俊一, 江口克秀, 石村匡崇, 原田頌隆, 朴崇娟, 木下恵志郎, 園田素史, 大賀正一

臨床血液 63 ( 6 ) 697 - 698 2022.6

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乳児期に致死的経過を辿る原発性免疫不全症に対する早期診断の重要性と課題

足立俊一, 江口克秀, 石村匡崇, 原田頌隆, 朴崇娟, 木下恵志郎, 園田素史, 大賀正一

臨床血液 63 ( 6 ) 697 - 698 2022.6

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Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes. International journal

Pin Fee Chong, Michiko Torio, Fumihiko Fujii, Yuichiro Hirata, Wakato Matsuoka, Yuri Sonoda, Yuko Ichimiya, Yutaro Yada, Noriyuki Kaku, Masataka Ishimura, Momoko Sasazuki, Yuhki Koga, Masafumi Sanefuji, Yasunari Sakai, Shouichi Ohga

European journal of clinical nutrition 76 ( 11 ) 1618 - 1621 2022.6 （ ISSN:0954-3007 eISSN:1476-5640 ）

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Vitamin deficiencies are an emerging concern in the management of children with autism spectrum disorder (ASD). Particular attention is required for recognizing the variable signs caused by unbalanced food intakes. We herein report two patients with multiple vitamin deficiencies who needed critical care showing different prognoses. Patient 1 with 'Shoshin' beriberi presenting with cardiac arrest had thiamine deficiency developed severe neurological sequelae despite rapid vitamin supplementation. Patient 2, who had leg pain and a limping gait, showed a rapid recovery with intravenous infusion and tube feeding after being diagnosed with scurvy. A literature search revealed several children with ASD with critically ill thiamine deficiency, but few reports documented a life-threatening condition in the form of cardiac arrest at the onset. Considering the high observation rate of food selectivity in children with ASD, early intervention is required to prevent the exacerbation of vitamin deficiencies to severe neurological disabilities.

DOI： 10.1038/s41430-022-01170-x

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血栓性素因スクリーニングの臨床的意義新生児血栓症の全国調査からの洞察

江上直樹, 落合正行, 市山正子, 井上普介, 園田素史, 石村匡崇, 堀田多恵子, 内海健, 康東天, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 1 ) S - 30 2022.5

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原発性免疫不全症候群に対する臍帯血移植後に脳梗塞を発症し、遺伝性プロテインC欠乏症と診断された乳児例新生児集中治療における血栓性素因の重要性

坂口嘉彬, 園田素史, 江上直樹, 井上普介, 落合正行, 石村匡崇, 堀田多恵子, 内海健, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 1 ) S - 26 2022.5

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原発性免疫不全症候群に対する臍帯血移植後に脳梗塞を発症し、遺伝性プロテインC欠乏症と診断された乳児例新生児集中治療における血栓性素因の重要性

坂口嘉彬, 園田素史, 江上直樹, 井上普介, 落合正行, 石村匡崇, 堀田多恵子, 内海健, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 1 ) S - 26 2022.5

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血栓性素因スクリーニングの臨床的意義新生児血栓症の全国調査からの洞察

江上直樹, 落合正行, 市山正子, 井上普介, 園田素史, 石村匡崇, 堀田多恵子, 内海健, 康東天, 大賀正一

日本産婦人科・新生児血液学会誌 32 ( 1 ) S - 30 2022.5

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Immune dysregulation syndrome with cytotoxic T-lymphocyte antigen 4 mutation showing multiple central nervous system lesions

Eriguchi M., Katsuya H., Kidoguchi K., Ureshino H., Nishi M., Nishihara M., Sonoda M., Ishimura M., Kimura S., Hara H.

Clinical and Experimental Neuroimmunology 13 ( 2 ) 116 - 120 2022.5

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Background: Haploinsufficiency of cytotoxic T-lymphocyte antigen 4 (CTLA4) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and diverse autoimmune disorders. Although central nervous system lesions have been described in patients with CTLA4 insufficiency, there have been few reports in the field of neurology. Case presentation: A 23-year-old man was referred to Saga University Hospital (Saga, Japan) with dizziness and abnormal head magnetic resonance imaging showing hyperintensity in the left cerebellar hemisphere. He was diagnosed with immune thrombocytopenia and hypogammaglobulinemia at age 8 years. He had repeated mild upper respiratory infections. Neurological events had occurred four times, with a long spinal lesion extending over three vertebral segments. High-dose intravenous methylprednisolone was effective for acute attacks, and low-dose prednisolone prevented relapses for 7 years. When he reached the age of 37 years, he developed severe diarrhea and immune cytopenia, and lost 6 kg in half a year. It was suspected that the patient had primary immunodeficiency due to his history of recurrent infections, hypogammaglobulinemia and severe diarrhea. Genome sequencing showed a heterozygous CTLA4 variant in exon 2. Abatacept therapy with prednisolone and cyclosporine was effective for diarrhea and autoimmune cytopenia. Conclusions: A patient with CTLA4 variant might develop multiple central nervous system lesions including longitudinally-extended spinal cord lesions. As there is effective targeted immunotherapy, a complete immunological work-up is required for early diagnosis when a patient presents with central nervous system lesions and multi-organ symptoms.

DOI： 10.1111/cen3.12672

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JAK阻害薬が増悪因子となりBKウイルス腎症を発症したSTAT1機能獲得型変異の一例

岩屋友香, 西山慶, 園田素史, 江口克秀, 石村匡崇, 大賀正一

日本小児腎臓病学会雑誌 35 ( 1Suppl. ) 180 - 180 2022.4

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High-dose immunoglobulin therapy for steroid-resistant myositis in juvenile localized scleroderma. International journal

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Yasunari Sakai, Kazunori Urabe, Shouichi Ohga

Pediatrics and neonatology 63 ( 5 ) 542 - 544 2022.4 （ ISSN:1875-9572 eISSN:2212-1692 ）

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DOI： 10.1016/j.pedneo.2022.01.006

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Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985-2016. International journal

Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Masakatsu Yanagimachi, Akihiro Iguchi, Yoji Sasahara, Keiko Okada, Takashi Koike, Reo Tanoshima, Masataka Ishimura, Masafumi Yamada, Maho Sato, Yoshiyuki Takahashi, Michiko Kajiwara, Hiroshi Kawaguchi, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio

Journal of clinical immunology 42 ( 3 ) 529 - 545 2022.4 （ ISSN:0271-9142 eISSN:1573-2592 ）

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PURPOSE: Hematopoietic cell transplantation (HCT) is a curative therapy for most patients with inborn errors of immunity (IEI). We conducted a nationwide study on HCT for patients with IEI other than severe combined immunodeficiency (non-SCID) in Japan. METHODS: Data from the Japanese national database (Transplant Registry Unified Management Program, TRUMP) for 566 patients with non-SCID IEI, who underwent their first HCT between 1985 and 2016, were retrospectively analyzed. RESULTS: The 10-year overall survival (OS) and event-free survival (EFS) were 74% and 64%, respectively. The 10-year OS for HCT from unrelated bone marrow (URBM), accounting for 39% of HCTs, was comparable to that for HCT from matched sibling donor (MSD), 79% and 81%, respectively. HCT from unrelated cord blood (URCB), accounting for 28% of HCTs, was also common, with a 10-year OS of 69% but less robust engraftment. The intensity of conditioning was not associated with OS or neutrophil recovery; however, myeloablative conditioning was more frequently associated with infection-related death. Patients who received myeloablative irradiation showed poor OS. Multivariate analyses revealed that HCT in 1985-1995 (hazard ratio [HR], 2.0; P = 0.03), URCB (HR, 2.0; P = 0.01), and related donor other than MSD (ORD) (HR, 2.9; P < 0.001) were associated with poor OS, and URCB (HR, 3.6; P < 0.001) and ORD (HR, 2.7; P = 0.02) showed a higher incidence of retransplantation. CONCLUSIONS: We present the 1985-2016 status of HCT for non-SCID IEI in Japan with sufficient statistical power, highlighting the potential of URBM as an alternative donor and the feasibility of reduced intensity conditioning.

DOI： 10.1007/s10875-021-01199-w

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新生児の遺伝性血栓症疫学と病因、治療選択

石村匡崇, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 31 ( 2 ) 35 - 40 2022.3

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新生児血栓症はまれと考えられてきたが、医療の進歩に伴い診断例は増加傾向にある。血栓症の原因として、心疾患や感染症などのほか、凝固因子・抗凝固因子に関する遺伝性疾患を基礎にもつ可能性がある。日本人に多い遺血栓性素因はプロテインC(PC)、プロテインS、アンチトロンビン(AT)欠乏症、およびADAMTS13欠乏症だが、新生児ではPC欠乏症がほとんどである。私たちは、小児血栓症の診断と治療の向上のため日本人小児の遺伝性血栓症の分子疫学と臨床像をまとめ、早期診断のための活性基準値および診断予測式を作成した。2020年より遺伝子検査が保険適応となり、より早く正確な診断が可能となった。血栓症治療においてもPC製剤、AT製剤などの補充療法に加え、2021年より新生児に対しても直接経口抗凝固薬も使用可能となった。重症PC欠乏症に対する根治療法としての肝移植も報告され、治療選択も拡大している。(著者抄録)
新生児単純ヘルペスウイルス感染症の治療指針と課題

園田素史, 石村匡崇, 市山正子, 藤吉順子, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 31 ( 2 ) 115 - 123 2022.3

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新生児単純ヘルペスウイルス(HSV)感染症は、主に垂直感染によって発症する重要な周産期感染症の一つである。臨床病型は表在型(SEM;skin, eye, and mouth)、中枢神経型(CNS;central nervous system)および全身型(Disseminated)の3つに分類され、それぞれ異なる症状と臨床経過を示す。1970年代以降、抗ウイルス薬の登場、またHSV-DNAを検出するPCR法の開発により、早期診断・治療が可能となり飛躍的に治療成績は改善した。しかし新生児医療が高度化した現代においても、全身型の新生児死亡率は29%、中枢神経型は65%以上に神経学的後遺症を残し、依然として予後不良の疾患である。本稿では新生児HSV感染症に対する治療指針と現在の課題について提示する。また新生児ヘルペス脳炎や新生児HSV関連血球貪食性リンパ組織球症といった重症例のリスク因子や治療戦略についても概説する。(著者抄録)
Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan. Reviewed International journal

Kay Tanita, Yoshiki Kawamura, Hiroki Miura, Noriko Mitsuiki, Takahiro Tomoda, Kento Inoue, Akihiro Iguchi, Masafumi Yamada, Taro Yoshida, Hideki Muramatsu, Norimasa Tada, Toshihiro Matsui, Motohiro Kato, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane

Frontiers in immunology 13 786375 - 786375 2022.2 （ ISSN:1664-3224 ）

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Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 in 50,000 births, mainly due to impaired lymphocyte differentiation. Without curative treatment, such as hematopoietic cell transplantation (HCT) or gene therapy, severe infection in the first year of life could make this condition fatal. The results of HCT are poor when patients have active infections, thus requiring early diagnosis before onset of infection. In five cases of SCID diagnosed in Japan, the oral rotavirus vaccine had been administered before diagnosis. In this study, we demonstrated that the rotavirus from their stools was a vaccine-derived strain. In some cases, severe gastroenteritis triggered the diagnosis of SCID. However, newborn screening for SCID is available before the first rotavirus vaccination using assays for the detection of T-cell receptor excision circles (TRECs). Therefore, to improve the prognosis of patients with SCID in Japan, we should establish a screening system of TRECs for newborns throughout Japan.

DOI： 10.3389/fimmu.2022.786375

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新生児・乳児ビタミンK欠乏性出血症予防効果的な新生児・乳児ビタミンK欠乏性出血症(VKDB)予防のエビデンス構築に向けて

落合正行, 石村匡崇, 江上直樹, 園田素史, 高橋大二郎, 菅秀太郎, 西久保敏也, 野上恵嗣, 大賀正一

日本小児科学会雑誌 126 ( 2 ) 214 - 214 2022.2

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新生児・乳児ビタミンK欠乏性出血症予防効果的な新生児・乳児ビタミンK欠乏性出血症(VKDB)予防のエビデンス構築に向けて

落合正行, 石村匡崇, 江上直樹, 園田素史, 高橋大二郎, 菅秀太郎, 西久保敏也, 野上恵嗣, 大賀正一

日本小児科学会雑誌 126 ( 2 ) 214 - 214 2022.2

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Changes in bone marrow and peripheral blood lymphocyte subset findings with onset of hepatitis-associated aplastic anemia. International journal

Toshihiko Kakiuchi, Katsuhide Eguchi, Daisuke Koga, Hiroi Eguchi, Masanori Nishi, Motoshi Sonoda, Masataka Ishimura, Muneaki Matsuo

Medicine 101 ( 8 ) e28953 2022.2 （ ISSN:0025-7974 eISSN:1536-5964 ）

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RATIONALE: Hepatitis-associated aplastic anemia (HAAA) is a rare illness that results in bone marrow failure following hepatitis development. The etiological agent remains unknown in most HAAA cases. However, clinical features of the disease and immunotherapy response indicate that immune-mediated factors play a central role in the pathogenesis of HAAA. Activation of cytotoxic T cells and increase in CD8 cells could exert cytotoxic effects on the myelopoietic cells in the bone marrow. PATIENT CONCERNS: A 15-month-old boy was brought to our hospital with complaints of generalized petechiae and purpura observed a week prior to hospitalization. His liver was palpated 3 cm below the costal margin, platelet count was 0 × 104/μL, and alanine aminotransferase level was 1346 IU/L. A blood test indicated cytomegalovirus infection, and 3 bone marrow examinations revealed progressive HAAA. As the disease progressed to the 3rd, 6th, and 9th week after onset, CD4+ T cells were markedly decreased, CD8+ T cells were markedly increased, and the CD4/CD8 ratio was significantly decreased. The number of B cells and natural killer cells decreased with time, eventually reaching 0.0%. DIAGNOSIS: HAAA. INTERVENTIONS: Rabbit antithymocyte globulin and eltrombopag olamine (a thrombopoietin receptor agonist) were administered. OUTCOMES: The patient's platelet count returned to normal, and bone marrow transplantation was avoided. The peripheral blood lymphocytes (PBLs) improved as the patient's general condition recovered. LESSONS: This case demonstrates that HAAA induced by cytomegalovirus infection features decreasing CD4+ and increasing CD8+ PBLs as the bone marrow hypoplasia progresses. The PBLs return to their normal levels with the recovery from the disease. Our case findings thus support the involvement of immunological abnormality in HAAA.

DOI： 10.1097/MD.0000000000028953

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Optimal biologics for juvenile idiopathic arthritis in an infection with SARS-CoV-2 α-variant. International journal

Shunichi Adachi, Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Tamami Tanaka, Yoshitomo Motomura, Shouichi Ohga

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 33 ( 1 ) e13686 2022.1 （ ISSN:0905-6157 eISSN:1399-3038 ）

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DOI： 10.1111/pai.13686

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Ecthyma Gangrenosum in an Infant with Interleukin-1 Receptor-Associated Kinase 4 Deficiency. International journal

Koji Kanno, Yoshiaki Cho, Shuichi Fujii, Yuki Ami, Osamu Nishizeki, Motoshi Sonoda, Masataka Ishimura, Naoki Fujiwara

The Journal of pediatrics 239 241 - 242 2021.12

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DOI： 10.1016/j.jpeds.2021.08.015
Successful treatment of joint and fascial chronic graft-versus-host disease with baricitinib. Reviewed International journal

Masaki Shimizu, Asami Shimbo, Masatoshi Takagi, Katsuhide Eguchi, Masataka Ishimura, Junichi Sugita, Tomohiro Morio, Hirokazu Kanegane

Rheumatology (Oxford, England) 61 ( 1 ) e1-e3 - E3 2021.12 （ ISSN:1462-0324 eISSN:1462-0332 ）

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DOI： 10.1093/rheumatology/keab599

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Granulocyte collection by polymorphonuclear cell-targeting apheresis with medium-molecular-weight hydroxyethyl starch.

Tomoko Henzan, Takuji Yamauchi, Ikumi Yamanaka, Teppei Sakoda, Yuichiro Semba, Masayasu Hayashi, Yoshikane Kikushige, Hiroyuki Mishima, Masataka Ishimura, Yuhki Koga, Toshihiro Miyamoto, Shouichi Ohga, Koichi Akashi, Takahiro Maeda, Yuya Kunisaki

International journal of hematology 114 ( 6 ) 691 - 700 2021.12

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DOI： 10.1007/s12185-021-03207-6
Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism: A Nationwide Study in Japan. International journal

Naoki Egami, Masayuki Ochiai, Masako Ichiyama, Hirosuke Inoue, Motoshi Sonoda, Masataka Ishimura, Souichi Suenobu, Toshiya Nishikubo, Akira Ishiguro, Taeko Hotta, Takeshi Uchiumi, Dongchon Kang, Shouichi Ohga

The Journal of pediatrics 238 259 - 267 2021.11

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DOI： 10.1016/j.jpeds.2021.07.001
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study. International journal

Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio

Journal of clinical immunology 41 ( 8 ) 1865 - 1877 2021.11

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DOI： 10.1007/s10875-021-01112-5
遺伝性骨髄不全症候群における造血細胞移植の課題 Fanconi貧血と重症型先天性角化不全症

木下恵志郎, 江口克秀, 石村匡崇, 長谷川一太, 矢田裕太郎, 園田素史, 白石暁, 村松秀城, 大賀正一

日本小児血液・がん学会雑誌 58 ( 4 ) 304 - 304 2021.10

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トシリズマブ使用中にSARS-CoV2英国変異株に罹患した若年性特発性関節炎の女児例

足立俊一, 園田素史, 石村匡崇, 江口克秀, 本村良知, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 49回 112 - 112 2021.10

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発症1年後にアメーバ赤痢と診断した2歳女児例

花木由香, 奥園清香, 金政光, 本村良知, 江口克秀, 石村匡崇, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 53回 151 - 151 2021.10

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遺伝性骨髄不全症候群における造血細胞移植の課題 Fanconi貧血と重症型先天性角化不全症

木下恵志郎, 江口克秀, 石村匡崇, 長谷川一太, 矢田裕太郎, 園田素史, 白石暁, 村松秀城, 大賀正一

日本小児血液・がん学会雑誌 58 ( 4 ) 304 - 304 2021.10

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新規ナンセンス変異によるMALT1欠損症の臨床症状と治療法(The clinical expression and treatment of MALT1 deficiency due to a novel nonsense mutation)

園田素史, 石村匡崇, 江口克秀, 矢田裕太郎, 白石暁, 大賀正一

日本血液学会学術集会 83回 OS3 - 3 2021.9

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The clinical expression and treatment of MALT1 deficiency due to a novel nonsense mutation(和訳中)

園田素史, 石村匡崇, 江口克秀, 矢田裕太郎, 白石暁, 大賀正一

日本血液学会学術集会 83回 OS3 - 3 2021.9

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Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy. International journal

Yutaro Yada, Michiko Torio, Yuhki Koga, Fumiya Yamashita, Takuya Ichimura, Katsuhide Eguchi, Masataka Ishimura, Yuichi Mushimoto, Akio Hiwatashi, Momoko Sasazuki, Ryutaro Kira, Yasunari Sakai, Shouichi Ohga

Molecular genetics and metabolism reports 28 100778 - 100778 2021.9

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DOI： 10.1016/j.ymgmr.2021.100778
Favorable outcomes of interferon-α and ribavirin treatment for a male with subacute sclerosing panencephalitis. International journal

358 577656 - 577656 2021.9

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Subacute sclerosing panencephalitis (SSPE) is a slow virus infection associated with mutant measles virus (MeV). The long-term outcome of antiviral treatments remains to be determined. We herein present a Japanese boy who was diagnosed with SSPE at 10 years of age. Intraventricular infusions of interferon-α effectively prevented the progress of symptoms during 14 years of follow-up period. Flow-cytometric analysis demonstrated higher proportion of T helper 17 cells (Th17, 18.2%) than healthy controls (4.8-14.5%) despite the normal subpopulation of peripheral lymphocytes. These data suggest that a group of patients with SSPE may show favorable responses to intraventricular infusions of interferon-α.

DOI： 10.1016/j.jneuroim.2021.577656
遺伝性骨髄不全症と原発性免疫不全症の治療戦略

石村匡崇, 江口克秀, 園田素史, 白石暁, 大賀正一

臨床血液 62 ( 8 ) 1327 - 1333 2021.8

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遺伝性骨髄不全症候群は,DNA損傷修復やテロメア維持,リボソームに関連する遺伝子異常によって発症する。輸血依存例に対して血液学的根治を目的に造血細胞移植を選択する場合には,抗がん剤と放射線による影響を考慮した前処置強度の減弱と移植後の長期観察が必要である。原発性免疫不全症は免疫担当細胞および蛋白の異常から易感染性と免疫異常を示す疾患群で,治療の基本は感染予防である。根治を目的に造血細胞移植が選択される小児は少なくないが,自己免疫・自己炎症に対する病態に応じた特異的免疫制御療法(標的治療)も可能となってきた。診断技術の進歩から,造血障害と免疫異常の両方を呈する単一遺伝子病も同定されるようになり,成人例の報告も増えてきた。造血細胞移植の血縁ドナー選択では保因者診断に配慮し,遺伝カウンセリングを必要とする。本稿では遺伝性骨髄不全症と原発性免疫不全症に対する治療戦略と注意点について概説する。(著者抄録)
持続する血便の診断に苦慮した2歳女児例

花木由香, 奥園清香, 金政光, 本村良知, 江口克秀, 石村匡崇, 大賀正一

日本小児科学会雑誌 125 ( 7 ) 1117 - 1117 2021.7

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重症型先天性角化不全症の治療選択

木下恵志郎, 幸伏寛和, 矢田裕太郎, 園田素史, 江口克秀, 石村匡崇, 大賀正一

日本小児科学会雑誌 125 ( 6 ) 980 - 980 2021.6

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遺伝性骨髄不全症に対する造血細胞移植 Fanconi貧血と重症型先天性角化不全症の予後と課題

木下恵志郎, 江口克秀, 石村匡崇, 幸伏寛和, 長谷川一太, 矢田裕太郎, 園田素史, 白石暁, 大賀正一

臨床血液 62 ( 6 ) 686 - 687 2021.6

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【血液内科医が注意すべき免疫異常・免疫不全】慢性活動性EBウイルス感染症と背景にある免疫不全

江口克秀, 石村匡崇, 矢田裕太郎, 園田素史, 白石暁, 大賀正一

血液内科 82 ( 5 ) 585 - 591 2021.5

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Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Reviewed International journal

Shun Koyamaishi, Takuya Kamio, Akie Kobayashi, Tomohiko Sato, Ko Kudo, Shinya Sasaki, Rika Kanezaki, Daiichiro Hasegawa, Hideki Muramatsu, Yoshiyuki Takahashi, Yoji Sasahara, Hidefumi Hiramatsu, Harumi Kakuda, Miyuki Tanaka, Masataka Ishimura, Masanori Nishi, Akira Ishiguro, Hiromasa Yabe, Takeo Sarashina, Masaki Yamamoto, Yuki Yuza, Nobuyuki Hyakuna, Kenichi Yoshida, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Tsutomu Toki, Kiminori Terui, Etsuro Ito

Bone marrow transplantation 56 ( 5 ) 1218 - 1219 2021.5

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DOI： 10.1038/s41409-020-01076-x
IgA腎症を呈したX連鎖無ガンマグロブリン血症の一例

岩屋友香, 西山慶, 園田素史, 江口克秀, 石村匡崇, 大賀正一

日本小児腎臓病学会雑誌 34 ( 1Suppl. ) 154 - 154 2021.5

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Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. International journal

Shun Koyamaishi, Takuya Kamio, Akie Kobayashi, Tomohiko Sato, Ko Kudo, Shinya Sasaki, Rika Kanezaki, Daiichiro Hasegawa, Hideki Muramatsu, Yoshiyuki Takahashi, Yoji Sasahara, Hidefumi Hiramatsu, Harumi Kakuda, Miyuki Tanaka, Masataka Ishimura, Masanori Nishi, Akira Ishiguro, Hiromasa Yabe, Takeo Sarashina, Masaki Yamamoto, Yuki Yuza, Nobuyuki Hyakuna, Kenichi Yoshida, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Tsutomu Toki, Kiminori Terui, Etsuro Ito

Bone marrow transplantation 56 ( 5 ) 1013 - 1020 2021.5

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DOI： 10.1038/s41409-020-01056-1
新規ナンセンス変異による完全型MALT1欠損症の臨床所見および治療法

園田素史, 石村匡崇, 江口克秀, 矢田祐太郎, Lenhartova Nina, 白石暁, 田中珠美, 酒井康成, 大賀正一

日本小児科学会雑誌 125 ( 2 ) 301 - 301 2021.2

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パルボウイルスB19感染による尿細管間質性腎炎を発症した遺伝性球状赤血球症

西山慶, 渡辺ゆか, 石村匡崇, 鉄原健一, 今井崇史, 金政光, 植木研次, 本村良知, 賀来典之, 酒井康成, 今留謙一, 大賀正一

日本小児科学会雑誌 125 ( 2 ) 374 - 374 2021.2

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胎児・新生児期における原発性免疫不全症の早期診断の意義

江口克秀, 石村匡崇, 坂井淳彦, 是松辰哉, 矢田裕太郎, 園田素史, 白石暁, 城戸咲, 井上普介, 落合正行, 加藤聖子, 大賀正一

日本産婦人科・新生児血液学会誌 30 ( 1 ) S - 58 2020.12

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【周産期の薬】新生児編疾患に対する薬剤の選び方・使い方・注意点血液疾患・免疫疾患血小板減少症

落合正行, 石村匡崇, 大賀正一

周産期医学 50 ( 増刊 ) 623 - 628 2020.12

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後天性サイトメガロウイルス感染症により重症化した新生児ループス

山本俊亮, 石村匡崇, 多久佳祐, 矢田裕太郎, 江口克秀, 松岡若利, 白石暁, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 30 ( 1 ) S - 56 2020.12

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成育期女性と新生児にみられる血栓塞栓症新生児の遺伝性血栓症疫学と病因、治療選択

石村匡崇, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 30 ( 1 ) S - 20 2020.12

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本邦における新生児単純ヘルペス感染症の全国疫学調査

園田素史, 石村匡崇, 市山正子, 藤吉順子, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 30 ( 1 ) S - 44 2020.12

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胎児期に家族性血球貪食性リンパ組織球症を疑い、迅速な新生児医療への移行により救命できた一例

森下博貴, 坂井淳彦, 蜂須賀信孝, 佐藤由佳, 城戸咲, 日高庸博, 石村匡崇, 大賀正一, 加藤聖子

日本産婦人科・新生児血液学会誌 30 ( 1 ) 25 - 26 2020.12

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パルボウイルスB19感染による尿細管間質性腎炎を発症した遺伝性球状赤血球症の一例

渡辺ゆか, 西山慶, 鉄原健一, 今井崇史, 名西悦郎, 本村良知, 賀来典之, 石村匡崇, 酒井康成, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 52回 225 - 225 2020.11

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新規遺伝性自己炎症性疾患 ROSAH症候群のiPS細胞を用いた病態解析

園田素史, 山元裕之, 石村匡崇, 江口克秀, 白石暁, 山名智志, 伊東崇子, 八幡信代, 高田英俊, 園田康平, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 48回 87 - 87 2020.10

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Diamond-Blackfan貧血に対する用量調整ブスルファン/フルダラビンを用いた非血縁者間骨髄移植および臍帯血を用いたサルベージ移植

江口克秀, 石村匡崇, 田村彰広, 伊藤暢宏, 矢田裕太郎, 園田素史, 白石暁, 小阪嘉之, 大賀正一

臨床血液 61 ( 10 ) 1525 - 1526 2020.10

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【小児の貧血】乳幼児期の貧血の診かた

落合正行, 石村匡崇

小児科 61 ( 11 ) 1475 - 1480 2020.10

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＜文献概要＞乳幼児期は身体成長と精神運動発達が目覚ましく,食事等の生活環境は大きく変化する.貧血の病因は多彩であり,年齢に応じた環境要因と遺伝学的背景を考慮する必要がある.乳幼児期は健診や予防接種,また,感染症等に繰り返し罹患するため,小児科医の診察を受ける機会が多い.病因に特徴的な所見と,日常診療で行われている臨床検査所見を理解することで,貧血の鑑別を進めることができる.出血や無形成発作による急激な貧血は致死的であり,緊急対応が必要である.さらに悪性腫瘍や血球貪食性リンパ組織球症による二次性貧血を鑑別しなければならない.鉄欠乏性貧血として非典型であれば,小児血液学を専門とする医師へ相談するとよい.
全身型若年性特発性関節炎に出現する末梢血中CD71+赤芽球による免疫抑制作用

金政光, 石村匡崇, 白石暁, 江口克秀, 名西悦郎, 本村良知, 後藤元宏, 高田英俊, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 48回 109 - 109 2020.10

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新生児期に診断された重症血友病Aに対するインヒビター発生抑制のための治療選択

江口克秀, 石村匡崇, 江口祥美, 木下恵志郎, 矢田裕太郎, 園田素史, 白石暁, 井上普介, 落合正行, 大賀正一

日本小児血液・がん学会雑誌 57 ( 4 ) 304 - 304 2020.10

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Hyperferritinemia and acute kidney injury in pediatric patients receiving allogeneic hematopoietic cell transplantation. International journal

Mari Kurokawa, Kei Nishiyama, Yuhki Koga, Katsuhide Eguchi, Takashi Imai, Utako Oba, Akira Shiraishi, Hazumu Nagata, Noriyuki Kaku, Masataka Ishimura, Satoshi Honjo, Shouichi Ohga

Pediatric nephrology (Berlin, Germany) 35 ( 10 ) 1977 - 1984 2020.10

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DOI： 10.1007/s00467-020-04619-y
パルボウイルスB19感染による尿細管間質性腎炎を発症した遺伝性球状赤血球症

渡辺ゆか, 鉄原健一, 西山慶, 今井崇史, 名西悦郎, 本村良知, 賀来典之, 石村匡崇, 酒井康成, 大賀正一

日本小児科学会雑誌 124 ( 9 ) 1444 - 1444 2020.9

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後天性CMV感染症により増悪した新生児ループス

山本俊亮, 石村匡崇, 多久佳祐, 矢田裕太郎, 江口克秀, 松岡若利, 白石暁, 井上普介, 落合正行, 大賀正一

日本小児科学会雑誌 124 ( 9 ) 1441 - 1441 2020.9

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早発型血栓症の遺伝性素因診断と治療管理の課題

大賀正一, 江上直樹, 石村匡崇, 山村健一郎, 落合正行, 康東天

臨床血液 61 ( 9 ) 1373 - 1381 2020.9

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血栓性素因の分子疫学的解明が進み,成人では血栓症の治療管理も近年急速に進歩した。一方,成長期の血栓症は新生児と思春期に多く,各々特徴が異なり,診療に関するエビデンスの集積が遅れている。早発型遺伝性血栓症は,電撃性紫斑病,頭蓋内出血・梗塞など壮年例とは異なる発症様式で診断が難しく,重篤な後遺症を生涯残す。多因子病である血栓症の個別治療を行うためには,早発型の胚細胞異常を明らかにする必要がある。遺伝性血栓性素因は民族で異なり,強い素因ほど一般集団の頻度は低い。日本人の成人にはプロテインS多型(K196E)の頻度が高く,小児の血栓症患者にはプロテインC異常が多く見つかる。患者集団の遺伝子型は出生後に高リスクから低リスクへと変化する。「特発性血栓症」が指定難病となり,遺伝子検査も保険収載されたが,個別治療管理法の確立が課題である。本稿では成人までに発症する血栓症の遺伝性素因,治療と予防について概説する。(著者抄録)
Parvovirus B19-Infected Tubulointerstitial Nephritis in Hereditary Spherocytosis. International journal

Kei Nishiyama, Yuka Watanabe, Masataka Ishimura, Kenichi Tetsuhara, Takashi Imai, Hikaru Kanemasa, Kenji Ueki, Yoshitomo Motomura, Noriyuki Kaku, Yasunari Sakai, Ken-Ichi Imadome, Shouichi Ohga

Open forum infectious diseases 7 ( 8 ) ofaa288 2020.8

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DOI： 10.1093/ofid/ofaa288
出血傾向のある糖尿病Ia患者に対する腎移植前の出血予防措置の経験例

松本翼, 今井崇史, 西山慶, 虫本雄一, 石井加奈子, 白石曉, 石村匡崇, 大賀正一

日本小児科学会雑誌 124 ( 7 ) 1173 - 1174 2020.7

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Nationwide survey of systemic chronic active EBV infection in Japan in accordance with the new WHO classification. International journal

Ichiro Yonese, Chizuko Sakashita, Ken-Ichi Imadome, Tohru Kobayashi, Masahide Yamamoto, Akihisa Sawada, Yoshinori Ito, Noriko Fukuhara, Asao Hirose, Yusuke Takeda, Masanori Makita, Tomoyuki Endo, Shun-Ichi Kimura, Masataka Ishimura, Osamu Miura, Shouichi Ohga, Hiroshi Kimura, Shigeyoshi Fujiwara, Ayako Arai

Blood advances 4 ( 13 ) 2918 - 2926 2020.7

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DOI： 10.1182/bloodadvances.2020001451
先天性骨髄不全症候群と原発性免疫不全症におけるがん素因 Invited Reviewed

石村匡崇, 大賀正一

臨床血液 60 ( 6 ) 702 - 707 2020.6

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DOI： https://doi.org/10.11406/rinketsu.60.702
Reduction in the Number of Varicella-Zoster Virus-Specific T-Cells in Immunocompromised Children with Varicella.

Kenji Murata, Takayuki Hoshina, Sagano Onoyama, Tamami Tanaka, Shunsuke Kanno, Masataka Ishimura, Yuhki Koga, Hideki Nakayama, Shouichi Ohga

The Tohoku journal of experimental medicine 250 ( 3 ) 181 - 190 2020.3

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DOI： 10.1620/tjem.250.181
A20ハプロ不全症のZnF7領域新規変異の同定とLPS誘導性細胞死による迅速診断

今井崇史, 西山慶, 白石暁, 江口克秀, 園田素史, 矢田裕太郎, 幸伏寛和, 石村匡崇, 大賀正一

日本小児科学会雑誌 124 ( 2 ) 301 - 301 2020.2

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Perioperative safety and haematostatic efficacy of a new bypassing agent pd-FVIIa/FX (Byclot) in haemophilia patients with high-responding type inhibitors. International journal

Rie Shirayama, Hideyuki Takedani, Yushi Chikasawa, Akira Ishiguro, Masataka Ishimura, Kiyotaka Isobe, Mitsuhiro Uchiba, Yoshiyasu Ogata, Harumi Kakuda, Koichi Kusuhara, Akira Shirahata

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 30 ( 8 ) 385 - 392 2019.12

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DOI： 10.1097/MBC.0000000000000851
非腫瘍性疾患に対する造血細胞移植九州大学病院小児科での10年間の検討

江口克秀, 石村匡崇, 白石暁, 幸伏寛和, 長谷川一太, 矢田裕太郎, 園田素史, 古賀友紀, 大賀正一

日本小児血液・がん学会雑誌 56 ( 4 ) 322 - 322 2019.10

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Biologics naiveの小児期発症Crohn病に対するウステキヌマブ療法と血清IL-12/IL-23p40の関連

石村匡崇, 白石暁, 江口克秀, 園田素史, 大賀正一

日本臨床免疫学会総会プログラム・抄録集 47回 110 - 110 2019.10

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新生児発症の重症血友病Aにおけるインヒビター発生防止を目的とした治療選択

江口祥美, 石村匡崇, 江口克秀, 白石暁, 市山正子, 井上普介, 落合正行, 大賀正一

日本小児科学会雑誌 123 ( 10 ) 1599 - 1599 2019.10

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インフリキシマブ治療中の若年性特発性関節炎に合併した肺炎球菌菌血症再発例

村本健翔, 神野俊介, 名西悦郎, 石村匡崇, 大賀正一

日本小児科学会雑誌 123 ( 10 ) 1544 - 1548 2019.10

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3歳女児。2歳時より若年性特発性関節炎に対しインフリキシマブ、メトトレキサート投与中であった。今回、発熱を主訴に当院を受診し、血液培養でStreptococcus pneumoniaeが検出され、肺炎球菌菌血症と診断された。本症例は13価肺炎球菌結合型ワクチンを4回接種していたが、ワクチンに含有されない莢膜血清型24Fが同定され、分離株はシークエンスタイプ5496であった。この株はペニシリン感受性で、抗菌薬を計12日間投与した。治療終了後39日目に肺炎を再発し、血液培養から初回と同じシークエンスタイプ5496の肺炎球菌が検出された。抗菌薬投与にて血液培養の陰性化、症状の改善を認め、第22病日に退院し、退院2ヵ月後に23価肺炎球菌莢膜多糖体ワクチンを追加接種した。
超低出生体重で出生し、反復する気道感染の精査中に頭蓋内石灰化を認めた10ヵ月男児

川上沙織, 園田有里, 江口克秀, 白石暁, 石村匡崇, 實藤雅文, 酒井康成, 大賀正一

脳と発達 51 ( 5 ) 333 - 333 2019.9

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新生児期の集学的治療によって救命し得た最重症型αサラセミア症例に対する根治治療としての造血細胞移植

園田素史, 石村匡崇, 長谷川一太, 幸伏寛和, 矢田裕太郎, 江口克秀, 白石暁, 野口雄史, 島貴史, 岡田純一郎, 楠田剛, 金城唯宗, 漢伸彦, 高畑靖, 大賀正一

臨床血液 60 ( 6 ) 727 - 727 2019.6

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新生児発症の重症血友病Aにおけるインヒビター発生防止を目的とした治療選択

江口克秀, 石村匡崇, 江口祥美, 白石暁, 市山正子, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 29 ( 1 ) S - 22 2019.5

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RAS関連自己免疫性リンパ増殖症候群様疾患(RALD)に対する造血細胞移植

江口克秀, 石村匡崇, 小野宏彰, 長谷川一太, 園田素史, 白石暁, 古賀友紀, 盛武浩, 高田英俊, 大賀正一

臨床血液 60 ( 5 ) 489 - 490 2019.5

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新生児期の集学的治療によって救命し得た最重症型α0-サラセミア症例に対する造血細胞移植

園田素史, 石村匡崇, 江口克秀, 市山正子, 藤吉順子, 井上普介, 落合正行, 金城唯宗, 高畑靖, 大賀正一

日本産婦人科・新生児血液学会誌 29 ( 1 ) S - 68 2019.5

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Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency. International journal

Yuko Ichimiya, Motoshi Sonoda, Masataka Ishimura, Shunsuke Kanno, Shouichi Ohga

Journal of clinical immunology 39 ( 3 ) 264 - 266 2019.4

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DOI： 10.1007/s10875-019-00626-3
新生児単純ヘルペスウイルス関連血球貪食性リンパ組織球症(HSV-HLH)

園田素史, 石村匡崇, 市山正子, 藤吉順子, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 28 ( 2 ) 63 - 70 2019.3

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新生児単純ヘルペスウィルス(HSV)感染症は主に産道感染によって新生児に発症する周産期感染症の重要な疾患の一つである。全身型、中枢神経型、表在型の3つの病型に分けられるが、特に全身型は新生児早期に発症し、一部ではHSV関連血球貪食性リンパ組織球症(HSV-HLH)に進展して、急激に致死的な経過をたどる予後不良な疾患である。救命のためには新生児HSV感染症を疑った時点で抗ウイルス薬の投与を開始することが、重症化の予防および生命予後の改善のために重要である。また新生児HSV-HLHに関しては高サイトカイン血症に基づいた重篤なDICの病態を合併していることから、適切な抗サイトカイン治療の選択も重要であると考えられる。しかしながら未だ新生児HSV-HLHの病態や治療に関する情報は乏しく、より良い診療のためには早期診断・治療の指針の確立が急務と考えられる。(著者抄録)
診断講座症例から学ぶIBD鑑別診断のコツ(第41回) 原発性免疫不全症に伴うIBD様腸炎

白石暁, 石村匡崇, 江口克秀, 園田素史, 大賀正一

13 ( 1 ) 44 - 48 2019.3

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炎症性腸疾患(IBD)は成人だけでなく小児にも発症する疾患であり、成長に深くかかわるため、診断と治療を厳格におこなう必要がある。クローン病と潰瘍性大腸炎が主体であり、どちらかにも分類することがむずかしいものをindeterminate colitisという。IBDの病因・病態には免疫系のメカニズムや環境因子などが関与するといわれているが、詳しいことはわかっていない。基礎疾患として原発性免疫不全症(先天性免疫不全症)が隠れていることがある。そのなかには造血幹細胞移植による免疫再構築から腸炎が寛解する疾患があるため、見逃さないことが重要である。(著者抄録)
Posttransplant recipient-derived CD4+ T-cell lymphoproliferative disease in X-linked hyper-IgM syndrome. International journal

Yasuaki Hagio, Akira Shiraishi, Masataka Ishimura, Motoshi Sonoda, Katsuhide Eguchi, Hidetaka Yamamoto, Yoshinao Oda, Shouichi Ohga

Pediatric blood & cancer 66 ( 3 ) e27529 2019.3

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DOI： 10.1002/pbc.27529
Diagnostic challenge of the newborn patients with heritable protein C deficiency. International journal

Masako Ichiyama, Hirosuke Inoue, Masayuki Ochiai, Masataka Ishimura, Akira Shiraishi, Junko Fujiyoshi, Hironori Yamashita, Kazuo Sato, Shinya Matsumoto, Taeko Hotta, Takeshi Uchiumi, Dongchon Kang, Shouichi Ohga

Journal of perinatology : official journal of the California Perinatal Association 39 ( 2 ) 212 - 219 2019.2

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DOI： 10.1038/s41372-018-0262-0
Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Invited Reviewed International journal

2019.2

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DOI： 10.3389/fped.2019.00015.
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. International journal

143 ( 1 ) 266 - 275 2019.1

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BACKGROUND: Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined. OBJECTIVE: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. METHODS: We reviewed retrospectively the medical records of cohorts undergoing HSCT at collaborating facilities. RESULTS: Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced-intensity conditioning. Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT. CONCLUSION: Patients with APDS1 showed variable clinical manifestations. Life-threatening progressive combined immunodeficiency and massive lymphoproliferation were common indications for HSCT. Fludarabine-based reduced-intensity conditioning-HSCT ameliorated clinical symptoms, but transplantation-related complications were frequent, including graft failure.

DOI： 10.1016/j.jaci.2018.04.032
Thrombotic microangiopathy in a very young infant with mitral valvuloplasty. International journal

Yuka Matsunaga, Masataka Ishimura, Hazumu Nagata, Kiyoshi Uike, Tadamune Kinjo, Masayuki Ochiai, Kenichiro Yamamura, Hidetoshi Takada, Yoshihisa Tanoue, Masaki Hayakawa, Masanori Matsumoto, Toshiro Hara, Shouichi Ohga

Pediatrics and neonatology 59 ( 6 ) 595 - 599 2018.12

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DOI： 10.1016/j.pedneo.2018.02.002
自然免疫と疾患病理自然免疫と腸管疾患

白石暁, 石村匡崇, 江口克秀, 園田素史, 大賀正一

日本小児感染症学会総会・学術集会プログラム・抄録集 50回 140 - 140 2018.11

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無脾症と摘脾患児のワクチン接種および抗菌薬予防内服の実態

本村良知, 名西悦郎, 神野俊介, 永田弾, 石村匡崇, 田口智章, 大賀正一

日本小児外科学会雑誌 54 ( 6 ) 1294 - 1294 2018.10

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Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome. International journal

Hiroe Itami, Shigeo Hara, Masanori Matsumoto, Shin Imamura, Rie Kanai, Kei Nishiyama, Masataka Ishimura, Shouichi Ohga, Makiko Yoshida, Ryojiro Tanaka, Yoshiyuki Ogawa, Yujiro Asada, Yoko Sekita-Hatakeyama, Kinta Hatakeyama, Chiho Ohbayashi

Thrombosis research 170 148 - 155 2018.10

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DOI： 10.1016/j.thromres.2018.08.020
新生児HSV関連血球貪食性リンパ組織球症の予後因子(Prognostic factors of neonatal hemophagocytic lymphohistiocytosis associated with HSV infection)

園田素史, 石村匡崇, 江口克秀, 白石暁, 神野俊介, 賀来典之, 落合正行, 大賀正一

臨床血液 59 ( 9 ) 1691 - 1691 2018.9

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Adalimumab for treatment of hemophagocytic syndrome following unrelated bone marrow transplantation in a boy with Behcet's disease and secondary myelodysplastic syndrome. International journal

Maiko Noguchi, Hiroshi Moritake, Sachiyo Kamimura, Motoshi Sonoda, Masataka Ishimura, Jiro Inagaki

Bone marrow transplantation 53 ( 9 ) 1214 - 1217 2018.9

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DOI： 10.1038/s41409-018-0180-y
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

International journal of hematology 108 ( 2 ) 228 - 231 2018.8

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DOI： 10.1007/s12185-018-2424-4
Reappraising newborn screening for cobalamin C disorder. International journal

Vlad Tocan, Kazuhiro Ohkubo, Kanako Higashi, Naoko Toda, Kanako Kojima-Ishii, Kei Nishiyama, Masataka Ishimura, Hidetoshi Takada, Osamu Sakamoto, Fusako Sasaki, Kazuko Yoshimura, Shinichi Hirose, Shouichi Ohga

Pediatrics and neonatology 59 ( 4 ) 415 - 417 2018.8

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DOI： 10.1016/j.pedneo.2017.11.002
Nontuberculous mycobacteria-associated hemophagocytic lymphohistiocytosis in MonoMAC syndrome. International journal

Katsuhide Eguchi, Masataka Ishimura, Motoshi Sonoda, Hiroaki Ono, Akira Shiraishi, Shunsuke Kanno, Yuhki Koga, Hidetoshi Takada, Shouichi Ohga

Pediatric blood & cancer 65 ( 7 ) e27017 2018.7

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DOI： 10.1002/pbc.27017
新生児とDIC 新生児HSV関連血球貪食性リンパ組織球症(HSV-HLH) 病態と予後因子の検討

園田素史, 石村匡崇, 市山正子, 藤吉順子, 井上普介, 落合正行, 大賀正一

日本産婦人科・新生児血液学会誌 28 ( 1 ) S - 24 2018.5

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遷延する筋炎に対して免疫グロブリン大量療法が有用であった汎発型限局性強皮症の男児例

園田素史, 石村匡崇, 江口克秀, 白石暁, 高田英俊, 大賀正一

アレルギー 67 ( 4-5 ) 652 - 652 2018.5

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原発性免疫不全症に合併した腸管病変に対する造血幹細胞移植の有用性

白石暁, 石村匡崇, 江口克秀, 園田素史, 高田英俊, 大賀正一

日本小児栄養消化器肝臓学会雑誌 32 ( 1 ) 41 - 42 2018.4

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遺伝性プロテインC欠乏症新生児を予測するための血漿プロテインC/S活性比

市山正子, 井上普介, 白石暁, 石村匡崇, 藤吉順子, 山下博徳, 佐藤和夫, 落合正行, 大賀正一

日本小児科学会雑誌 122 ( 2 ) 317 - 317 2018.2

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新生児単純ヘルペスウィルス関連血球貪食性リンパ組織球症(HSV-HLH)の2例

園田素史, 石村匡崇, 江口克秀, 白石暁, 神野俊介, 賀耒典之, 落合正行, 高田英俊, 大賀正一

日本小児科学会雑誌 122 ( 2 ) 538 - 538 2018.2

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新規PGM3遺伝子変異による高IgE症候群の一例

江口克秀, 白石暁, 石村匡崇, 神野俊介, 金政光, メイヨーエレン美智, 園田素史, 名西悦郎, 高田英俊, 大賀正一

日本小児科学会雑誌 122 ( 2 ) 254 - 254 2018.2

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視神経炎が先行しウステキヌマブが有効であったクローン病の1例

白石暁, 石村匡崇, 馬場理絵子, 中村涼子, 吉良龍太郎, 園田素史, 江口克秀, 高田英俊, 大賀正一

日本小児科学会雑誌 122 ( 2 ) 537 - 537 2018.2

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Thrombotic microangiopathy in a very young infant with mitral valvuloplasty Reviewed International journal

Matsunaga Y., @Ishimura M, @Nagata H, @Uike K, Kinjo T, @Ochiai M, Yamamura K, @Takada H, @Tanoue Y, Hayakawa M, Matsumoto M, @Hara T, @Ohga S.

Pediatr Neonatol. 2018.2

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DOI： 0.1016/j.pedneo.2018.02.002
新生児単純ヘルペスウイルス関連血球貪食性リンパ組織球症(HSV-HLH)の診療方針の確立を目指して新生児HSV-HLH 2例を基に考察

園田素史, 井上普介, 市山正子, 藤吉順子, 落合正行, 江口克秀, 白石暁, 石村匡崇, 神野俊介, 賀耒典之, 高田英俊, 大賀正一

日本新生児成育医学会雑誌 29 ( 3 ) 587 - 587 2017.10

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Target BUを用いて造血幹細胞移植を施行したDiamond-Blackfan貧血(DBA)の3例

江口克秀, 石村匡崇, 園田素史, 白石暁, 高田英俊, 大賀正一

日本小児科学会雑誌 121 ( 10 ) 1765 - 1765 2017.10

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九州における家族性血球貪食症候群(FHL)の現状

園田素史, 井上普介, 市山正子, 藤吉順子, 落合正行, 江口克秀, 白石暁, 石村匡崇, 高田英俊, 大賀正一, 興梠雅彦, 松本志郎, 橋本邦夫

日本新生児成育医学会雑誌 29 ( 3 ) 634 - 634 2017.10

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新生児単純ヘルペスウイルス関連血球貪食性リンパ組織球症の2例

園田素史, 石村匡崇, 江口克秀, 白石暁, 水口壮一, 本村良知, 神野俊介, 賀耒典之, 高田英俊, 大賀正一

日本小児科学会雑誌 121 ( 10 ) 1762 - 1762 2017.10

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早期発症型炎症性腸疾患(Early Onset IBD;EOIBD)の診断と治療炎症性腸疾患と原発性免疫不全症

白石暁, 石村匡崇, 江口克秀, 園田素史, 高田英俊, 大賀正一

日本小児栄養消化器肝臓学会雑誌 31 ( Suppl. ) 77 - 77 2017.9

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生体肝移植後の肝炎関連再生不良性貧血に対して免疫抑制療法が奏効した1例

竹本竜一, 石村匡崇, 江口克秀, 園田素史, 白石暁, 賀来典之, 高田英俊, 大賀正一, 松浦俊治, 田口智章

日本小児科学会雑誌 121 ( 7 ) 1260 - 1260 2017.7

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発熱、関節痛、歯肉腫脹、紫斑を主訴に診断に至った壊血病の男児例

園田素史, 江口克秀, 石村匡崇, 酒井康成, 高田英俊, 大賀正一, 工藤嘉公

日本小児科学会雑誌 121 ( 7 ) 1256 - 1256 2017.7

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The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. International journal

Hirofumi Inoue, Shin-Ichi Terachi, Takeshi Uchiumi, Tetsuji Sato, Michiyo Urata, Masataka Ishimura, Yui Koga, Taeko Hotta, Toshiro Hara, Dongchon Kang, Shouichi Ohga

Pediatric blood & cancer 64 ( 7 ) 2017.7

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DOI： 10.1002/pbc.26404
Mycobacterium kansasii感染症を契機に血球貪食性リンパ組織球症(HLH)を発症したMonoMAC症候群

江口克秀, 石村匡崇, 園田素史, 小野宏彰, 白石暁, 中島健太郎, 古賀友紀, 高田英俊, 大賀正一

臨床血液 58 ( 6 ) 691 - 692 2017.6

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炎症性腸疾患と原発性免疫不全症

白石暁, 石村匡崇, 江口克秀, 園田素史, 高田英俊, 大賀正一

福岡医学雑誌 108 ( 4 ) 131 - 138 2017.4

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原発性免疫不全症と炎症性腸疾患(IBD)との関連について述べた。IBDの病因・病態には免疫学的な要因と環境因子が関与すると言われているが、明らかなメカニズムは不明である。免疫学的な機序として、腸管上皮細胞のtight junctionの減少がTumor Necrosis Factor(TNF)などのproinflammatory cytokineの放出を促すことや、腸管上皮のbarrierの変化は病原体の侵入を増やし、抗原提示細胞により多く取り込まれ免疫系を刺激することが知られている。このように、IBDと腸管の免疫機構に大きな関わりがあるのは間違いないが、IBD発症の詳細なメカニズムの原因特定にまでは至っていない。IBDを診療する時には基礎疾患を考慮するべきであり、特に早期発症のIBDでは基礎疾患を鑑別に挙げることが重要である。
家族性血球貪食性リンパ組織球症(FHL)の診断、治療の課題

石村匡崇, 江口克秀, 園田素史, 白石暁, 高田英俊, 大賀正一

日本産婦人科・新生児血液学会誌 27 ( 1 ) S - 80 2017.4

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極低出生体重児における高フェリチン血症

落合正行, 倉田浩昭, 安岡和昭, 井上普介, 藤吉順子, 松下悠紀, 石村匡崇, 大賀正一

日本産婦人科・新生児血液学会誌 27 ( 1 ) S - 62 2017.4

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新生児のプロテインC活性基準値と遺伝性プロテインC欠乏症の診断

市山正子, 井上普介, 井上裕文, 落合正行, 石村匡崇, 楠田剛, 山下博徳, 佐藤和夫, 堀田多恵子, 内海健, 康東天, 大賀正一

日本産婦人科・新生児血液学会誌 26 ( 2 ) 17 - 22 2017.3

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本邦の小児遺伝性血栓症の約70%は、プロテインC、プロテインSとアンチトロンビンの3大抗凝固因子欠乏である。新生児期は最も血栓症の頻度が高く、電撃性紫斑病や頭蓋内出血、梗塞で発症するプロテインC欠乏症が多い。新生児期の凝固、抗凝固能は生理的範囲が広く、母体や付属物の影響を受けるため、基準範囲や遺伝子検査の適応基準は定まっていない。私たちの研究では、正期産児のプロテインC活性はプロテインS活性に比べて低く、生後2週までは活性値30%未満の児も認めた。また、新生児期発症の遺伝性プロテインC欠乏症を本邦の報告例を基に解析すると、両アレル変異を有する16名のうち15名は日齢7未満に電撃性紫斑病や頭蓋内病変で発症し、プロテインC活性は10%以下であった。遺伝性プロテインC欠乏症を早期診断し、適切な治療と予防を行うためには、活性値や臨床症状に基づいた遺伝子検査の適応基準の確立が求められる。(著者抄録)
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. International journal

Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike

Journal of clinical immunology 37 ( 1 ) 92 - 99 2017.1

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DOI： 10.1007/s10875-016-0357-3
腸管T細胞性リンパ増殖症として発症した活性化PI3Kδ症候群

寺西英人, 石村匡崇, 古賀友紀, 江口克秀, 園田素史, 小林賢子, 白石暁, 中島健太郎, 池上幸治, 阿萬紫, 山元英崇, 高田英俊, 大賀正一

臨床血液 58 ( 1 ) 20 - 25 2017.1

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症例は13歳,男。幼少時より気道感染症を繰り返し10回以上の入院歴があった。12歳より腹痛,下痢を認め,血便を伴うようになり,下部消化管内視鏡で大腸全層性に多発するリンパ濾胞様隆起性病変を指摘された。粘膜生検でMALTリンパ腫が疑われ当院を紹介受診した。当院の病理検査所見ではclonalityのないT細胞優位のリンパ増殖でありT細胞性リンパ増殖症(T-cell LPD)と診断した。Tリンパ球減少(492/μl)と特異抗体産生不全を伴う高IgG血症から複合型免疫不全症と診断した。T-cell LPDを合併しており,活性化PI3Kδ症候群(APDS)を疑いPIK3CD遺伝子を解析し,c.1573 G to A p.Glu525Lysの既知ヘテロ変異を認め確定診断した。APDSは細胞内増殖シグナルであるPI3K-Akt-mTOR経路の活性化を背景としてリンパ球の異常増殖,細胞の早期老化,細胞死に伴う易感染性を呈する新しく見出された原発性免疫不全症であり,悪性B細胞性リンパ腫を合併しやすい。本児ではPSL,CyAの投与でT-cell LPDを制御し得たが,根治のため造血細胞移植を予定している。(著者抄録)
Transient Hemi-Lower Limb Ischemia in the Newborn: Arterial Thrombosis or Persistent Sciatic Artery? International journal

Makiko Kirino, Masayuki Ochiai, Masako Ichiyama, Hirosuke Inoue, Takeshi Kusuda, Tadamune Kinjo, Masataka Ishimura, Shouichi Ohga

AJP reports 7 ( 1 ) e13-e16 2017.1

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DOI： 10.1055/s-0037-1598044
Mycobacterium Kansasii感染症を契機に血球貪食性リンパ組織球症(HLH)を発症したMonoMAC症候群

江口克秀, 石村匡崇, 園田素史, 白石暁, 小野宏彰, 古賀友紀, 高田英俊, 大賀正一

日本小児血液・がん学会雑誌 53 ( 4 ) 232 - 232 2016.11

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家族性血球貪食性リンパ組織球症(FHL)の診断、治療の課題

石村匡崇, 江口克秀, 園田素史, 白石暁, 高田英俊, 大賀正一

日本小児血液・がん学会雑誌 53 ( 4 ) 244 - 244 2016.11

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M.kansasiiによる菌血症、腹腔内リンパ節膿瘍を発症したMonoMAC症候群

江口克秀, 石村匡崇, 園田素史, 白石暁, 村田憲治, 本村良知, 神野俊介, 西尾寿乗, 高田英俊

日本小児科学会雑誌 120 ( 10 ) 1568 - 1568 2016.10

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A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases. International journal

Etsuro Nanishi, Takayuki Hoshina, Hidetoshi Takada, Masataka Ishimura, Hisanori Nishio, Takahiro Uehara, Yumi Mizuno, Shunji Hasegawa, Shouichi Ohga, Masayoshi Nagao, Maiko Igarashi, Shuhei Yajima, Yoshio Kusumoto, Noriko Onishi, Yoji Sasahara, Takahiro Yasumi, Toshio Heike, Toshiro Hara

The Journal of infection 73 ( 4 ) 358 - 68 2016.10

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DOI： 10.1016/j.jinf.2016.07.018
九州における家族性血球貪食症候群(FHL)の現状

江口克秀, 石村匡崇, 園田素史, 白石暁, 興梠雅彦, 松本志郎, 橋本邦生, 高田英俊

臨床血液 57 ( 9 ) 1469 - 1469 2016.9

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Immunoregulatory function of neonatal nucleated red blood cells in humans. International journal

Lili Cui, Hidetoshi Takada, Tomohito Takimoto, Junko Fujiyoshi, Masataka Ishimura, Toshiro Hara

Immunobiology 221 ( 8 ) 853 - 61 2016.8

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DOI： 10.1016/j.imbio.2016.04.004
新生児発症遺伝性プロテインC欠乏症スクリーニングのためのプロテインC活性基準

市山正子, 井上普介, 石村匡崇, 楠田剛, 落合正行, 堀田多恵子, 康東天, 山下博徳, 佐藤和夫, 原寿郎, 大賀正一

日本産婦人科・新生児血液学会誌 26 ( 1 ) S - 10 2016.6

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電撃性紫斑病を呈し、集学的治療により救命しえた劇症型溶血性連鎖球菌感染症の幼児例

園田素史, 石村匡崇, 奥園清香, 神野俊介, 賀来典之, 本村良知, 西尾壽乗, 高田英俊

日本小児科学会雑誌 120 ( 3 ) 654 - 654 2016.3

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九州における家族性血球貪食症候群(FHL)の現状

江口克秀, 石村匡崇, 園田素史, 白石暁, 興梠雅彦, 松本志郎, 橋本邦生, 高田英俊

日本小児科学会雑誌 120 ( 2 ) 294 - 294 2016.2

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新生児発症遺伝性プロテインC欠乏症スクリーニングのためのプロテインC活性基準

市山正子, 井上普介, 石村匡崇, 楠田剛, 落合正行, 山下博徳, 佐藤和夫, 大賀正一

日本小児科学会雑誌 120 ( 2 ) 320 - 320 2016.2

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重症RSV肺炎を契機に診断された色素失調症を伴う外胚葉形成不全免疫症の男児

山下文也, 石村匡崇, 松岡若利, 園田素史, 江口克秀, 小田紘嗣, 小原收, 高田英俊

日本小児科学会雑誌 120 ( 2 ) 292 - 292 2016.2

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電撃性紫斑病を呈した劇症型溶血性連鎖球菌感染症の3歳男児例

奥園清香, 神野俊介, 石村匡崇, 園田素史, 本村良知, 西尾壽乗, 高田英俊, 原寿郎

日本小児科学会雑誌 120 ( 2 ) 323 - 323 2016.2

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BTK gene targeting by homologous recombination using a helper-dependent adenovirus/adeno-associated virus hybrid vector

H Yamamoto, M Ishimura, M Ochiai, H Takada, K Kusuhara, Y Nakatsu, T Tsuzuki, K Mitani, T Hara

Gene Therapy 23 ( 2 ) 205 - 213 2016.2

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DOI： 10.1038/gt.2015.91
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. International journal

Masako Ichiyama, Shouichi Ohga, Masayuki Ochiai, Kotaro Fukushima, Masataka Ishimura, Michiko Torio, Michiyo Urata, Taeko Hotta, Dongchon Kang, Toshiro Hara

Brain & development 38 ( 2 ) 253 - 6 2016.2

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DOI： 10.1016/j.braindev.2015.07.004
Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism. International journal

Masako Ichiyama, Shouichi Ohga, Masayuki Ochiai, Koichi Tanaka, Yuka Matsunaga, Takeshi Kusuda, Hirosuke Inoue, Masataka Ishimura, Tomohito Takimoto, Yui Koga, Taeko Hotta, Dongchon Kang, Toshiro Hara

Pediatric research 79 ( 1-1 ) 81 - 6 2016.1

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DOI： 10.1038/pr.2015.180
Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. International journal

Tadahiro Yanagi, Tatsuki Mizuochi, Yugo Takaki, Keisuke Eda, Keiichi Mitsuyama, Masataka Ishimura, Hidetoshi Takada, Dror S Shouval, Alexandra E Griffith, Scott B Snapper, Yushiro Yamashita, Ken Yamamoto

BMC gastroenterology 16 10 - 10 2016.1

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DOI： 10.1186/s12876-016-0424-5
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. International journal

Hidetoshi Takada, Masataka Ishimura, Tomohito Takimoto, Toaki Kohagura, Hideto Yoshikawa, Masue Imaizumi, Koichi Shichijyou, Yoko Shimabukuro, Tomoo Kise, Nobuyuki Hyakuna, Osamu Ohara, Shigeaki Nonoyama, Toshiro Hara

Medicine 95 ( 4 ) e2437 2016.1

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DOI： 10.1097/MD.0000000000002437
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis (vol 172, pg 1475, 2013) Reviewed

Takehiko Doi, Shouichi Ohga, Masataka Ishimura, Hidetoshi Takada, Kanako Ishii, Kenji Ihara, Hideyuki Nagai, Toshiro Hara

EUROPEAN JOURNAL OF PEDIATRICS 174 ( 12 ) 1701 - 1701 2015.12

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DOI： 10.1007/s00431-015-2638-x
EBV関連T細胞性リンパ増殖症で上気道閉塞を来たしRituximabが著効した症例

園田素史, 二宮崇仁, 石村匡崇, 高田英俊

日本小児血液・がん学会雑誌 52 ( 4 ) 367 - 367 2015.10

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治療抵抗性Diamond-Blackfan貧血(RPL5変異)でMDS(del 20q)へ進展し、血縁者間同種骨髄移植を行った女児例(Hematopoietic stem cell transplantation for a girl with refractory Diamond Blackfan anemia(RPL5 mutation) developing into MDS with del 20q)

園田素史, 石村匡崇, 大賀正一, 高田英俊

日本小児血液・がん学会雑誌 52 ( 4 ) 258 - 258 2015.10

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薬剤性過敏症症候群が先行し、診断に難渋した血管免疫芽球性T細胞リンパ腫の3歳女児例

村岡衛, 石村匡崇, 安岡和昭, 今井崇史, 松岡若利, 山元裕之, 神野俊介, 西尾壽乘, 古賀友紀, 高田英俊, 原寿郎, 山元英崇, 中司悠

臨床血液 56 ( 5 ) 522 - 523 2015.5

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Williamsia muralisによるカテーテル関連血流感染症の小児例

園田素史, 村岡衛, 二宮崇仁, 神野俊介, 石村匡崇, 西尾壽乗, 高田英俊, 原寿郎

日本小児科学会雑誌 119 ( 2 ) 400 - 400 2015.2

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Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6. Reviewed International journal

@Takimoto T, @Takada H, @Ishimura M, @Kirino M, Hata K, Ohara O, Morio T, @Hara T.

Neonatology 107 ( 3 ) 185 - 190 2015.1

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DOI： 10.1159/000370059
Early progression of atherosclerosis in children with chronic infantile neurological cutaneous and articular syndrome. International journal

Kenichiro Yamamura, Hidetoshi Takada, Kiyoshi Uike, Yasutaka Nakashima, Yuichiro Hirata, Hazumu Nagata, Tomohito Takimoto, Masataka Ishimura, Eiji Morihana, Shouichi Ohga, Toshiro Hara

Rheumatology (Oxford, England) 53 ( 10 ) 1783 - 7 2014.10

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DOI： 10.1093/rheumatology/keu180
胎児水頭症から診断された先天性プロテインCヘテロ接合体欠損症の新生児例

市山正子, 中村有香里, 落合正行, 石村匡崇, 楠田剛, 浦田美秩代, 堀田多恵子, 康東天, 大賀正一, 原寿郎

日本産婦人科・新生児血液学会誌 24 ( 1 ) S - 94 2014.5

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Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis. International journal

Takehiko Doi, Shouichi Ohga, Masataka Ishimura, Hidetoshi Takada, Kanako Ishii, Kenji Ihara, Hideyuki Nagai, Toshiro Hara

European journal of pediatrics 172 ( 11 ) 1475 - 81 2013.11

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DOI： 10.1007/s00431-013-2065-9
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report Reviewed International journal

Higuchi Y, Shimizu J, Hatanaka M, Kitano E, Kitamura H, Takada H, Masataka Ishimura, Toshiro Hara, Ohara O, Asagoe K, Kubo K

PEDIATRIC RHEUMATOLOGY 11 2013.10

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DOI： 10.1186/1546-0096-11-41
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. International journal

Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe, Toshihide Kubo

Pediatric rheumatology online journal 11 ( 1 ) 41 - 41 2013.10

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DOI： 10.1186/1546-0096-11-41
Limited renal prophylaxis in regular plasmatherapy for heritable ADAMTS13 deficiency. International journal

Takehiko Doi, Shouichi Ohga, Naoko Ito, Masataka Ishimura, Naohiro Suga, Akihiko Nomura, Hidetoshi Takada, Masanori Matsumoto, Yoshihiro Fujimura, Toshiro Hara

Pediatric blood & cancer 60 ( 9 ) 1557 - 8 2013.9

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DOI： 10.1002/pbc.24553
Paediatric presentation and outcome of congenital protein C deficiency in Japan Reviewed International journal

@Ohga S, @Kang D, @Kinjo T,@ Ochiai M, @Doi T,@ Ishimura M, Kayamori Y,@ Urata M, Yamamoto J, Suenobu S.-I, Kanagane H, Ikenoue T, Shirahata A, @Hara T

Haemophilia 19 ( 3 ) 378 - 384 2013.5

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DOI： 10.1111/hae.12097
吸引分娩後の頭血腫から診断された中等症および重症新生児血友病Aの2例

澤野徹, 菅尚浩, 深町滋, 赤峰哲, 慶田裕美, 落合正行, 石村匡崇, 瀧本智仁, 原寿郎, 大賀正一

日本小児科学会雑誌 117 ( 1 ) 161 - 161 2013.1

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Endocrine complications in primary immunodeficiency diseases in Japan. International journal

Takafumi Nozaki, Hidetoshi Takada, Masataka Ishimura, Kenji Ihara, Kohsuke Imai, Tomohiro Morio, Masao Kobayashi, Shigeaki Nonoyama, Toshiro Hara

Clinical endocrinology 77 ( 4 ) 628 - 34 2012.10

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DOI： 10.1111/j.1365-2265.2012.04390.x
Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome. International journal

Kazuhiro Ohkubo, Kenji Ihara, Shouichi Ohga, Masataka Ishimura, Toshiro Hara

Thyroid : official journal of the American Thyroid Association 22 ( 10 ) 1080 - 3 2012.10

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DOI： 10.1089/thy.2011.0521
Successful treatment of a patient with tumor necrosis factor receptor-associated periodic syndrome using a half-dose of etanercept. International journal

Koichi Kusuhara, Takayuki Hoshina, Mitsumasa Saito, Masataka Ishimura, Hirosuke Inoue, Takahiko Horiuchi, Tetsuji Sato, Toshiro Hara

Pediatrics international : official journal of the Japan Pediatric Society 54 ( 4 ) 552 - 5 2012.8

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DOI： 10.1111/j.1442-200X.2011.03525.x
Treatment choice of immunotherapy or further chemotherapy for Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. International journal

Akira Shiraishi, Shouichi Ohga, Takehiko Doi, Masataka Ishimura, Tomohito Takimoto, Hidetoshi Takada, Toshihiro Miyamoto, Yasunobu Abe, Toshiro Hara

Pediatric blood & cancer 59 ( 2 ) 265 - 70 2012.8

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DOI： 10.1002/pbc.24039
小児先天性Protein C欠乏症の発症様式

大賀正一, 金城唯宗, 落合正行, 松永友佳, 石村匡崇, 土居岳彦, 井藤奈央子, 原寿郎, 山本順子, 康東天

臨床血液 53 ( 2 ) 268 - 268 2012.2

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Clonal origin of Epstein-Barr virus (EBV)-infected T/NK-cell subpopulations in EBV-positive T/NK-cell lymphoproliferative disorders of childhood. International journal

Shouichi Ohga, Masataka Ishimura, Goichi Yoshimoto, Toshihiro Miyamoto, Hidetoshi Takada, Tamami Tanaka, Koichi Ohshima, Yoshiyasu Ogawa, Ken-Ichi Imadome, Yasunobu Abe, Koichi Akashi, Toshiro Hara

Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 51 ( 1 ) 31 - 7 2011.5

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DOI： 10.1016/j.jcv.2011.01.014
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. Reviewed International journal

78 ( 6 ) 2010.12

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DOI： 10.1111/j.1399-0004.2010.01432.x.
Nephrolithiasis as an extra-intestinal presentation of pediatric inflammatory bowel disease unclassified. International journal

Michiko Torio, Masataka Ishimura, Shouichi Ohga, Takehiko Doi, Rina Utsunomiya, Kazuhiro Ohkubo, Naohiro Suga, Katsunori Tatsugami, Takayuki Matsumoto, Hidetoshi Takada, Toshiro Hara

Journal of Crohn's & colitis 4 ( 6 ) 674 - 8 2010.12

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DOI： 10.1016/j.crohns.2010.05.012
Incomplete Kawasaki disease in a patient with chronic granulomatous disease. International journal

Jun Muneuchi, Masataka Ishimura, Hidetoshi Takada, Takayuki Hoshina, Rina Utsunomiya, Kazuyuki Ikeda, Kenichiro Yamaguchi, Shouichi Ohga, Koichi Kusuhara, Toshiro Hara

Pediatrics international : official journal of the Japan Pediatric Society 52 ( 3 ) e134-6 2010.6

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DOI： 10.1111/j.1442-200X.2010.03059.x
Disseminated Bacillus Calmette-Guérin lymphadenitis in a patient with gp91phox- chronic granulomatous disease 25 years after vaccination. International journal

168 ( 6 ) 745 - 7 2009.6

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A boy developed ipsilateral axillary lymphadenitis after Bacillus Calmette-Guérin (BCG) inoculation at the age of 5 months. Subsequently, he was diagnosed with X-linked chronic granulomatous disease (CGD) by the nitroblue tetrazolium assay when he was 4 years old. Body computerized tomography (CT) performed at the age of 25 years showed enlarged lymph nodes in the left periclavicular and axillary regions, and was confirmed by gallium scintigraphy. Mycobacterial culture, smear, and polymerase chain reaction (PCR) of the sputum and gastric fluid were negative. Whole-blood IFN-gamma assay was negative as well. Mycobacterium bovis BCG was isolated from the lymph node biopsy by PCR amplification and culture. No mutation of the IFN-gamma receptor 1 could be identified. In conclusion, CGD can be the underlying condition for BCG-itis; whole-blood IFN-gamma assay might be useful in differentiating BCG infection and tuberculosis in CGD patients; BCG vaccination is contraindicated in X-linked CGD.

DOI： 10.1007/s00431-008-0824-9
Cardiovascular complications associated with chronic active Epstein-Barr virus infection. International journal

Jun Muneuchi, Shouichi Ohga, Masataka Ishimura, Kazuyuki Ikeda, Kenichiro Yamaguchi, Akihiko Nomura, Hidetoshi Takada, Yasunobu Abe, Toshiro Hara

Pediatric cardiology 30 ( 3 ) 274 - 81 2009.4

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DOI： 10.1007/s00246-008-9343-8
Epstein-Barr virus load in cerebrospinal fluid of patients with chronic active Epstein-Barr virus infection. International journal

Shouichi Ohga, Masafumi Sanefuji, Masataka Ishimura, Akihiko Nomura, Hiroyuki Torisu, Ryutaro Kira, Hidetoshi Takada, Yumi Mizuno, Yukumasa Kazuyama, Toshiro Hara

The Pediatric infectious disease journal 27 ( 11 ) 1027 - 30 2008.11

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DOI： 10.1097/INF.0b013e318178d21e
Thromboembolic complications in splenectomized patients with dominantly inherited beta-thalassemia. Invited Reviewed International journal

@Ohga S, Ideguchi H, Kato J, @Ishimura M, @Takada H, Harada N, Kawanaka H, @Hattori Y, @Kang D, Hamasaki N, @Hara T.

Acta Haematol. 120 ( 1 ) 31 - 35 2008.10

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DOI： 10.1159/000151601
B細胞・NK細胞・plasmacytoid dendritic cell(pDC)がいずれも欠損した新規原発性免疫不全症候群

松崎寛司, 本村良知, 鳥尾倫子, 石村匡崇, 高田英俊, 大賀正一, 原寿郎

日本小児科学会雑誌 112 ( 9 ) 1445 - 1445 2008.9

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Lipopolysaccharide-induced monocytic cell death for the diagnosis of mild neonatal-onset multisystem inflammatory disease. International journal

Hidetoshi Takada, Masataka Ishimura, Hiroko Inada, Shouichi Ohga, Koichi Kusuhara, Yoichi Moroi, Masutaka Furue, Toshiro Hara

The Journal of pediatrics 152 ( 6 ) 885 - 7 2008.6

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DOI： 10.1016/j.jpeds.2008.01.038
Sjogren's syndrome-associated meningoencephalomyelitis: cerebrospinal fluid cytokine levels and therapeutic utility of tacrolimus. International journal

Takayuki Hoshina, Yui Yamaguchi, Shouichi Ohga, Ryutaro Kira, Masataka Ishimura, Hidetoshi Takada, Tamami Tanaka, Toshiro Hara

Journal of the neurological sciences 267 ( 1-2 ) 182 - 6 2008.4

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Early-onset sarcoidosis mimicking refractory cutaneous histiocytosis. International journal

Shouichi Ohga, Kiyomi Ichino, Kazunori Urabe, Masataka Ishimura, Hidetoshi Takada, Ryuta Nishikomori, Masutaka Furue, Toshiro Hara

Pediatric blood & cancer 50 ( 3 ) 723 - 6 2008.3

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細菌性髄膜炎から電撃性紫斑病を発症し活性化プロテインC製剤が著効したヘテロ接合プロテインC欠乏症の1例

石村匡崇, 大賀正一, 齋藤光正, 保科隆之, 馬場晴久, 高田英俊, 康東天, 原寿郎

小児がん 44 ( プログラム・総会号 ) 185 - 185 2007.12

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発熱と皮下結節を主症状とし皮膚生検よりWeber-Christian病と診断した1乳児例

齋藤光正, 石村匡崇, 保科隆之, 高田英俊, 大賀正一, 楠原浩一, 原寿郎, 占部和敬, 古江増隆

日本小児皮膚科学会雑誌 26 ( 2 ) 164 - 164 2007.11

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Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus. International journal

R Ni, K Ihara, K Miyako, M Takemoto, M Ishimura, H Kohno, N Matsuura, A Yoshimura, T Hara

International journal of immunogenetics 33 ( 1 ) 7 - 10 2006.2

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A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia. Reviewed International journal

@Ihara K, @Miyako K, @Ishimura M, @Kuromaru R, Wang HY, Yasuda K, @Hara T.

J Inherit Metab Dis. 28 ( 5 ) 681 - 687 2005.9

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Books

Human Pathobiochemistry: Hereditary anti-coagulant deficiencies

Masataka Ishimura, Shouichi Ohga（ Role： Joint author）

Springer 2019.3

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Language：Japanese Book type：Scholarly book

DOI： 10.1007/978-981-13-2977-7_17

Presentations

An Early and Non-invasive Diagnostic Method for Histiocytic Necrotizing Lymphadenitis International conference

The 25th Fukuoka International Symposium on Pediatric/Maternal-child health Research 2014.8

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Event date： 2014.8

Language：English Presentation type：Oral presentation (general)

Country：Japan
アデノ・アデノ随伴ウイルスベクターを用いた相同組換えによるBTK遺伝子修復

石村　匡崇, 山元裕之, 高田英俊, 中津可道, 續輝久, 原寿郎

第117回日本小児科学会学術集会 2014.4

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Event date： 2014.4

Language：Japanese Presentation type：Oral presentation (general)

Venue：名古屋 Country：Japan
Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村　匡崇, 高田英俊, 山元裕之, 大賀正一, 原寿郎

第117回日本小児科学会学術集会 2014.4

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Event date： 2014.4

Language：Japanese Presentation type：Oral presentation (general)

Venue：名古屋 Country：Japan
Late-onset familial hemophagocytic lymphohistiocytosis (FHL) type 3 mimicking malignant lymphoma

2013.11

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Event date： 2013.11 - 2013.12

Language：English Presentation type：Oral presentation (general)

Country：Japan
Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村　匡崇, 土居岳彦, 高田英俊, 瀧本智仁, 山元裕之, 吉田健一, 小川誠司, 小島勢二, 大賀正一, 原寿郎

厚生科学研究費補助金（難治性疾患克服研究研究事業）原発性免疫不全症に関する研究班 2014.1

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Language：Japanese Presentation type：Oral presentation (general)

Venue：福岡 Country：Japan
Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村　匡崇, 高田英俊, 山元裕之, 大賀正一, 原寿郎

第10回九州小児免疫フォーラム 2014.3

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Venue：福岡 Country：Japan
Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村　匡崇, 土居岳彦, 高田英俊, 瀧本智仁, 山元裕之, 白石暁, 吉田健一, 小川誠司, 小島勢二, 大賀正一, 原寿郎

厚生科学研究費補助金（難治性疾患克服研究研究事業）稀少小児遺伝性血液疾患に関する研究班 2013.5

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Venue：名古屋 Country：Japan
原発性免疫不全症全国疫学調査結果報告

石村匡崇, 高田英俊, 土居　岳彦, 平家　俊男, 小林　正夫, 有賀　正, 土屋　滋, 野々山恵章, 宮脇利男, 原寿郎

第115回日本小児科学会 2012.4

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Venue：福岡 Country：Japan
原発性免疫不全症全国疫学調査結果よりXLAとCVIDに関して

石村匡崇, 高田英俊, 土居　岳彦, 金兼弘和, 森尾友宏, 宮脇　利男, 原寿郎

115回日本小児科学会 2012.4

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Venue：福岡 Country：Japan
インターフェロン誘導遺伝子発現上昇は壊死性リンパ節炎（菊池病）の診断に有用である

石村匡崇, 水野由美, 高田英俊, 後藤元宏, 土居岳彦, 保科　隆之, 大賀正一, 原寿郎

第115回日本小児科学会 2012.4

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Venue：福岡 Country：Japan
インターフェロン誘導遺伝子発現上昇は壊死性リンパ節炎（菊池病）の診断に有用である

石村匡崇, 水野由美, 高田英俊, 後藤元宏, 土居　岳彦, 保科隆之, 大賀正一, 原寿郎

第40回日本臨床免疫学会 2012.9

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Venue：東京 Country：Japan
An Early and Non-invasive Diagnostic Method for Histiocytic Necrotizing Lymphadenitis International conference

The 8th Congress of Asian Society for Pediatric Research 2012.5

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Country：Korea, Republic of
原発性免疫不全症候群の合併症としての内分泌疾患

石村匡崇, 野崎　高史, 高田英俊, 井原　健二, 今井耕輔, 森尾　友宏, 小林正夫, 野々山恵章, 原寿郎

第14回福岡小児感染免疫・血液カンファレンス 2012.7

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Venue：福岡 Country：Japan
Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村　匡崇, 土居岳彦, 瀧本智仁, 山元裕之, 白石暁, 吉田健一, 小川誠司, 小島勢二, 大賀正一, 原寿郎

第41回日本臨床免疫学会 2013.11

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Venue：下関 Country：Japan
原発性免疫不全症の年齢による特徴～XLAとCVIDを中心に～

石村　匡崇, 高田英俊, 瀧本智仁, 土居岳彦, 今井耕輔, 金兼弘和, 森尾友宏, 野々山恵章, 宮脇利男, 原寿郎

第41回日本臨床免疫学会 2013.11

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MISC

【血液症候群(第3版)-その他の血液疾患を含めて-】凝固・線溶異常による出血傾向　先天性凝固線溶異常症　血友病および類縁疾患　血友病性偽腫瘍 Invited

石村匡崇

日本臨床別冊 ( 血液症候群III ) 225 - 227 2023.11 （ ISSN:0047-1852 ）

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Bruising Behind the Ears in a Neonate

Koji Kanno, Yoshiaki Cho, Shuichi Fujii, Yuki Ami, Osamu Nishizeki, Motoshi Sonoda, Masataka Ishimura, Naoki Fujiwara

JOURNAL OF PEDIATRICS 2021.12

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DOI： 10.1016/j.jpeds.2021.07.052
【小児疾患診療のための病態生理2 改訂第6版】免疫不全 B細胞欠損症

石村匡崇

小児内科 2021.12

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【小児科医に必要な止血・血栓・凝固・線溶の基礎知識】総論止血・血栓・凝固・線溶の生理

石村匡崇, 大賀正一

小児科 2021.12

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＜文献概要＞出血と血栓から体を守る仕組みは,最も原始的な生体防御機構である.血液は血管内では凝固することなく循環し,血管外では速やかに凝固して止血する.血管内で異常な凝固が起これば血栓症(病的血栓)を発症し,血管外で凝固できなければ出血傾向を呈する.血管が破綻して出血すると,まず血小板凝集が起こり一次血栓を形成する.さらに,凝固因子が活性化することにより,強固なフィブリン網による血栓が形成され,二次止血が完了する.抗凝固因子の生理的な作用により凝固反応が適切に停止し,その後フィブリンが線溶系により分解される.血管,血小板,凝固因子,抗凝固因子および線溶因子の異常によって出血性疾患と血栓症が発症する.
遺伝性骨髄不全症と原発性免疫不全症の治療戦略

石村匡崇, 江口克秀, 園田素史, 白石暁, 大賀正一

臨床血液 2021.8

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遺伝性骨髄不全症候群は,DNA損傷修復やテロメア維持,リボソームに関連する遺伝子異常によって発症する。輸血依存例に対して血液学的根治を目的に造血細胞移植を選択する場合には,抗がん剤と放射線による影響を考慮した前処置強度の減弱と移植後の長期観察が必要である。原発性免疫不全症は免疫担当細胞および蛋白の異常から易感染性と免疫異常を示す疾患群で,治療の基本は感染予防である。根治を目的に造血細胞移植が選択される小児は少なくないが,自己免疫・自己炎症に対する病態に応じた特異的免疫制御療法(標的治療)も可能となってきた。診断技術の進歩から,造血障害と免疫異常の両方を呈する単一遺伝子病も同定されるようになり,成人例の報告も増えてきた。造血細胞移植の血縁ドナー選択では保因者診断に配慮し,遺伝カウンセリングを必要とする。本稿では遺伝性骨髄不全症と原発性免疫不全症に対する治療戦略と注意点について概説する。(著者抄録)
Postnatal Cytomegalovirus Infection-Associated Hemolytic Anemia in an Infant Born to a Lupus Mother

Shunsuke Yamamoto, Masataka Ishimura, Keisuke Taku, Yutaro Yada, Katsuhide Eguchi, Wakato Matsuoka, Akira Shiraishi, Hirosuke Inoue, Masayuki Ochiai, Shouichi Ohga

PEDIATRIC BLOOD & CANCER 2020.12

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【診断・治療可能な遺伝性疾患を見逃さないために】血液・免疫性疾患遺伝性血栓症

石村匡崇, 落合正行, 大賀正一

小児科臨床 2020.5

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初発時の発熱、皮膚病変とランゲルハンス細胞組織球症の難治性との関連単一施設における40症例の解析

小林賢子, 古賀友紀, 石村匡崇, 中島健太郎, 加藤稚子, 小野宏彰, 園田素史, 江口克秀, 深野玲司, 本荘哲, 小田義直, 大賀正一

臨床血液 2019.5

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致死性出血性肺炎を契機に診断されたX連鎖性外胚葉形成不全免疫不全症の乳児例

一宮優子, 園田素史, 石村匡崇, 賀来典之, 村岡衛, 水口壮一, 神野俊介, 本村良知, 江口克秀, 白石暁, 石井加奈子, 高田英俊, 大賀正一

日本小児科学会雑誌 2019.2

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小児の血栓症わが国における小児遺伝性血栓症の診断と治療

石村匡崇, 市山正子, 落合正行, 堀田多恵子, 康東天, 大賀正一

日本小児血液・がん学会雑誌 2019.1

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血栓塞栓症は遺伝性素因、基礎疾患を背景に脱水や感染、外傷を契機に発症し、重篤な後遺症を残す予後不良な疾患である。遺伝性素因として凝固因子異常(FV Leiden/FII G20210A)や凝固調節因子(プロテインC:PC、プロテインS:PSおよびアンチトロンビン:AT)欠損が知られている。わが国で小児遺伝性血栓症と診断された患者の約70%は凝固調節因子欠損症(PC45%、PS15%、AT10%)である。その多くは生後2週間までに発症した新生児PC欠損症である。遺伝性血栓症を疑う契機は、若年発症あるいは繰り返す深部静脈血栓症、電撃性紫斑病(とくに新生児期)および血栓症の家族歴を有する場合である。小児は凝固因子と凝固調節因子の活性が生理的に低く、新生児期はとくにばらつきが大きいため、遺伝性血栓症を単独の活性値測定のみで予測することは難しい。確定診断のためには遺伝子検査を必要とするが、ビタミンK依存性因子で半減期の短いPC/PS/血液凝固第VII因子FVIIを同時に測定し、年齢基準値と比べ低下している場合や、因子活性が相対的に乖離している場合は遺伝子解析を積極的に進める。治療については低分子ヘパリンやワルファリン、不足する凝固調節因子目的に新鮮凍結血漿輸血を行う。補充療法として活性化PC製剤やAT製剤も使用可能である。電撃性紫斑病を繰り返す重症例には長期的な補充療法の検討が必要であり、肝移植による根治療法も行われることがある。(著者抄録)
血球貪食症候群・血球貪食性リンパ組織球症

石村　匡崇

今日の医療指針2019年度 2019.1

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Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (scientific journal)
当院における小児急性肝不全に対する肝移植の検討

柳佑典, 松浦俊治, 高橋良彰, 河野雄紀, 吉丸耕一朗, 田口智章, 是松辰哉, 長谷川一太, 松岡若利, 一宮優子, 本村良知, 賀来典之, 石村匡崇, 大賀正一

日本小児科学会雑誌 2018.12

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Molecular autopsyからX連鎖性外胚葉形成不全免疫不全症(EDA-ID)と診断した乳児例

一宮優子, 賀来典之, 村岡衛, 水口壮一, 本村良知, 園田素史, 石村匡崇, 神野俊介, 石井加奈子, 高田英俊, 大賀正一

日本小児科学会雑誌 2018.12

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当院における小児急性肝不全の治療戦略過去5年17例の経験から

吉丸耕一朗, 田口智章, 是松辰哉, 長谷川一太, 松岡若利, 一宮優子, 水口壮一, 本村良知, 賀来典之, 高橋良彰, 柳佑典, 松浦俊治, 石村匡崇, 大賀正一

日本小児科学会雑誌 2018.12

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【知っておくべき治療可能な胎児・新生児希少疾患】血液疾患遺伝性血栓症

市山正子, 落合正行, 石村匡崇, 大賀正一

周産期医学 2018.10

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【血栓・塞栓症-診断・治療・予防の最新動向-】新生児・小児の血栓症

落合正行, 石村匡崇, 市山正子, 石黒精, 大賀正一

日本臨床 2018.9

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Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia (vol 108, pg 228, 2018)

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

INTERNATIONAL JOURNAL OF HEMATOLOGY 2018.8

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DOI： 10.1007/s12185-018-2493-4
【ヘルペスウイルス感染症の最近の知見】EBウイルス慢性活動性EBウイルス感染症

石村匡崇, 今留謙一, 大賀正一

臨牀と研究 2018.4

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慢性活動性EBウイルス感染症

石村匡崇、今留謙一、大賀正一

臨床と研究 2018.4

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Two Neonatal Patients with Systemic Herpes Simplex Virus-associated Hemophagocytic lymphohistiocytosis

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Shouichi Ohga

PEDIATRIC BLOOD & CANCER 2017.11

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Hematopoietic Stem Cell Transplantation with Targeted Busulfan-containing Regimen for Diamond-Blackfan Anemia

Katsuhide Eguchi, Masataka Ishimura, Motoshi Sonoda, Akira Shiraishi, Hidetoshi Takada, Shouichi Ohga

PEDIATRIC BLOOD & CANCER 2017.11

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MDSへ進展し、同種骨髄移植を行ったDiamond-Blackfan貧血(RPL5変異)の一例

園田素史, 石村匡崇, 一宮優子, 寺師英子, 江口克秀, 酒井康成, 高田英俊, 大賀正一

日本小児科学会雑誌 2017.2

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初発時の発熱・皮膚病変とランゲルハンス細胞組織球症の難治性との関連

小林賢子, 古賀友紀, 石村匡崇, 中島健太郎, 園田素史, 江口克秀, 深野玲司, 小田義直, 大賀正一

日本小児科学会雑誌 2017.2

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血栓性微小血管症を契機に診断された遺伝性コバラミン代謝異常症(cblC型)の1例

トカン・ヴラッド, 東加奈子, 大久保一宏, 戸田尚子, 西山慶, 石村匡崇, 山下文也, 一宮優子, 水口壮一, 平田悠一郎, 賀来典之, 石井加奈子, 高田英俊, 坂本修, 佐々木聡子, 吉村和子, 廣瀬伸一

日本小児科学会雑誌 2016.7

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腸管T細胞性リンパ増殖症(TLPD)の発症により診断した活性化PI3Kδ症候群(APDS)

寺西英人, 石村匡崇, 古賀友紀, 江口克秀, 薗田素史, 小林賢子, 白石暁, 中島健太郎, 高田英俊

臨床血液 2016.6

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リンパ増殖性疾患(T-LPD)の発症により診断した活性化PI3Kδ症候群(APDS)の1例

江口克秀, 石村匡崇, 寺西英人, 園田素史, 小林賢子, 白石暁, 中島健太郎, 古賀友紀, 高田英俊

日本小児科学会雑誌 2016.5

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九州における家族性血球貪食症候群(FHL)の現状

石村匡崇，江口克秀，園田素史，白石暁，興梠雅彦，松本志郎，橋本邦生，高田英俊

平成27年度厚生労働科学研究免疫アレルギー疾患等実用化研究事業　原発性免疫不全症に対する造血幹細胞移植法の確立班班会議報告書 2016.3

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XLAに組織球性壊死性リンパ節炎を合併し血球貪食症候群をきたした1例

松岡若利, 石村匡崇, 本村良知, 神野俊介, 西尾壽乘, 迫田哲平, 宮本敏治, 山元英崇, 小田義直, 高田英俊

日本小児科学会雑誌 2016.2

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Crohn病治療中にループス様症候群およびNK/T細胞白血病を発症した一例

一宮優子, 石村匡崇, 武市実奈, 米元耕輔, 園田素史, 中島健太郎, 酒井康成, 石崎義人, 古賀友紀

日本小児科学会雑誌 2016.2

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血液疾患家族歴を有するRAS関連自己免疫性リンパ球増殖症候群様疾患(RALD)の女児

小野宏彰, 小林賢子, 加藤稚子, 寺西英人, 中島健太郎, 石村匡崇, 古賀友紀, 高田英俊

日本小児血液・がん学会雑誌 2015.10

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脳幹部腫瘍に対しベバシズマブにて症状の改善を認めた3例

中島健太郎, 寺西英人, 小林賢子, 加藤稚子, 小野宏彰, 石村匡崇, 古賀友紀, 高田英俊

日本小児血液・がん学会雑誌 2015.10

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サイトメガロウイルス感染症に伴い網状皮斑を呈したと考えられた乳児の1例

横山翌香, 伊藤さおり, 冬野洋子, 中原真希子, 小林賢子, 石村匡崇, 古江増隆

西日本皮膚科 2015.4

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【見逃しやすい免疫不全】ピンポイント小児医療[ウイルス感染症と免疫不全症] 限られたウイルスに易感染性を示す免疫不全症

石村匡崇, 高田英俊, 原寿郎

小児内科 2014.10

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＜Key Points＞(1)限られたウイルスに対し易感染性を示す原発性免疫不全症が存在する。(2)ウイルス特異的のみならず、臓器特異性を認める原発性免疫不全症が見出されている。(3)易感染性の原因として造血系免疫担当細胞のみならず、非造血系細胞の機能障害によることもあることが明らかとなってきた。(4)病態解析のためにiPS細胞が用いられるようになり、患者由来iPS細胞を分化誘導することでin vitroでの解析が可能となっている。(著者抄録)
限られたウイルスに易感染性を示す免疫不全症（単純ヘルペス脳炎、EBV、パピローマウイルス、細胞融解型感染形式をとるウイルス）

石村　匡崇, 高田英俊, 原寿郎

小児内科 2014.10

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C1qB遺伝子の新規スプライシング異常を認めたC1q欠損症の一家系

樋口洋介, 清水順也, 久保俊英, 浅越健治, 石村匡崇, 高田英俊, 原寿郎, 小原收, 北野悦子, 畑中道代, 北村肇

補体 2014.8

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Whole exome sequenceにより本邦初のRTEL1変異を同定したHoyeraal-Hreidarsson症候群

石村匡崇, 原寿郎, 土居岳彦, 高田英俊, 瀧本智仁, 山元裕之, 吉田健一, 小川誠司, 小島勢二, 大賀正一

厚生科学研究費補助金（難治性疾患克服研究研究事業）原発性免疫不全症に関する研究班　平成25年度研究報告書 2014.3

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【血液症候群(第2版)-その他の血液疾患を含めて-】凝固・線溶異常による出血傾向先天性凝固線溶異常症血友病および類縁疾患血友病性偽腫瘍

石村匡崇, 大賀正一

日本臨床 2013.3

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原発性免疫不全症の年齢による特徴〜XLAとCVIDを中心に〜

石村匡崇, 原寿郎, 高田　英俊, 瀧本　智仁, 土居　岳彦, 今井　耕輔, 金兼弘和, 森尾　友宏, 野々山　恵章, 宮脇　利男

厚生科学研究費補助金（難治性疾患克服研究研究事業）原発性免疫不全症に関する研究班　平成24年度研究報告書 2013.3

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日本人の新生児・小児における症候性プロテインC欠乏症の発症様式

大賀正一, 落合正行, 金城唯宗, 土居岳彦, 石村匡崇, 山本順子, 末延聡一, 金兼弘和, 浦田美秩代, 栢森裕三, 池ノ上克, 白幡聡, 康東天, 原寿郎

日本産婦人科・新生児血液学会誌 2012.6

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原発性免疫不全症候群疫学調査二次調査結果　内分泌疾患に関して

石村匡崇、野崎高史、高田英俊、井原健二、今井耕輔、森尾友宏、小林正夫、野々山恵章、原　寿郎

平成23年度厚生科学研究費補助金原発性免疫不全症に関する研究班研究報告書 47-52 2012.3

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相同組換えによる遺伝子修復型の遺伝子治療法の開発

石村匡崇, 山元裕之, 落合正行, 高田英俊, 原寿郎

炎症と免疫 2011.5

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【原発性免疫不全症の新展開】相同組換えによる遺伝子修復型の遺伝子治療法の開発

石村匡崇, 山元裕之, 落合正行, 高田英俊, 原寿郎

炎症と免疫 2011.4

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原発性免疫不全症に対する遺伝子治療は、造血幹細胞移植(hematopoietic stem cell transplantaion:HSCT)にかわる根治療法として盛んに研究がおこなわれており、1990年代から実際に遺伝子治療がおこなわれている。しかし、当初より用いられていたレトロウイルスベクターによる遺伝子導入法では、宿主のゲノムへの遺伝子挿入による発がんが問題となった。そのため、より安全で生理的な変異遺伝子そのものを修復する方法が求められている。現在、相同組換えにより変異遺伝子を修復する遺伝子ターゲティングの研究が進み、新たなウイルスベクターやzinc finger nuclease(ZFN)が登場しており、これらについて概説する。(著者抄録)
原発性免疫不全症候群疫学調査二次調査結果重症複合免疫不全症と高IgE症候群に関して

石村匡崇、土居岳彦、高田英俊、有賀正、土屋滋、今井耕輔、野々山恵章、森尾友宏、峯岸克行、横田俊平、上松一永、宮脇利男、谷内江昭宏、小島勢二、平家俊男、小林正夫、原　寿郎

平成22年度厚生科学研究費補助金原発性免疫不全症に関する研究班報告書 53-58 2011.3

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2008年原発性免疫不全症全国疫学調査結果報告

石村匡崇、土居岳彦、高田英俊、原寿郎

平成21年度厚生科学研究費補助金原発性免疫不全症に関する研究班報告書 45-49 2010.3

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ヘルパー依存型アデノ・アデノ随伴ウイルスハイブリッドベクターを用いた相同組換えによるBTK遺伝子修復研究

石村匡崇、落合正行、山元裕之、古和温子、土居岳彦、高田英俊、大賀正一、楠原浩一、中津可道、續輝久、相澤絵美、三谷幸之介、原寿郎

平成21年度厚生科学研究費補助金原発性免疫不全症に関する研究班報告書 120-123 2010.3

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第VIII因子抑制因子陽性血友病児に対する活性化プロトロンビン複合体製剤(APCC)による予防的止血管理

名西悦郎, 石村匡崇, 高田英俊, 大賀正一, 原寿郎, 嶋緑倫

日本小児科学会雑誌 2009.3

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Haemophilus influenzae type bによる髄膜炎からショック・DICとなり頭部CTで多発梗塞・出血を認め両下腿の紫斑および足趾壊疽の進行を認めた1例

石村匡崇, 吉良龍太郎, 齋藤光正, 大賀正一, 馬場晴久, 原寿郎

脳と発達 2008.7

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先天性貧血 : Diamons-Blackfan 貧血の病態と治療

大賀正一, 古賀友紀, 石村匡崇, 高田英俊, 原寿郎

日本産婦人科・新生児血液学会誌 = The Japanese journal of obstetrical, gynecological & neonatal hematology 2008.6

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タクロリムスが奏効したSjoegren症候群関連髄膜脳脊髄炎の1例髄液サイトカインの変化

山口結, 保科隆之, 大賀正一, 石村匡崇, 吉良龍太郎, 高田英俊, 原寿郎

日本小児科学会雑誌 2008.3

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小頭症・鳥様顔貌・発育障害および造血不全を伴う新規重症複合免疫不全症の一例

石村匡崇、高田英俊、大賀正一、原　寿郎

平成19年度厚生科学研究費補助金原発性免疫不全症に関する研究班報告書 2008.3

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細菌性髄膜炎に伴う電撃性紫斑病にProtein C(PC)製剤が著効し診断に至ったヘテロ接合体PC欠乏症

石村匡崇, 齋藤光正, 大賀正一, 保科隆之, 馬場晴久, 吉良龍太郎, 浦田美秩代, 高田英俊, 楠原浩一, 康東天, 原寿郎

臨床血液 2007.9

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Sjoegren症候群の経過中に無菌性髄膜炎、急激な感覚障害と膀胱直腸障害を来した1例

山口結, 吉良龍太郎, 鳥巣浩幸, 石村匡崇, 大賀正一, 原寿郎

脳と発達 2007.9

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髄膜炎に伴う電撃性紫斑病から診断されたヘテロ接合体プロテインC欠乏症

石村匡崇, 齋藤光正, 大賀正一, 保科隆之, 馬場晴久, 吉良龍太郎, 浦田美秩代, 高田英俊, 楠原浩一, 康東天, 原寿郎

日本産婦人科・新生児血液学会誌 = The Japanese journal of obstetrical, gynecological & neonatal hematology 2007.6

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小頭症・鳥様顔貌・発育障害および造血不全を伴う新規重症複合免疫不全症の一例

石村匡崇, 高田英俊, 大賀正一, 原寿郎

日本産婦人科・新生児血液学会誌 = The Japanese journal of obstetrical, gynecological & neonatal hematology 2007.6

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Professional Memberships

The Japanese society of Pediatric hematology/oncology
Japanese society of hematology
Japan Pediatric Society
Japanese Society for Pediatric Infectious Diseases
日本産婦人科・新生児血液学会
Japanese Society for Immunodeficiency and Autoinflammatory diseases
Japanese society for immunology
九州学校保健学会
The Japanese Society on Thrombosis and Hemostasis
Pediatric Rheumatology association of Japan
The Japan Society for Clinical Immunology

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Committee Memberships

Steering committee member Domestic

2022.4 - Present
日本免疫不全・自己炎症学会総務委員会委員 Domestic

2022.4 - Present
日本小児血液・がん学会 AA/MDS委員会　委員 Domestic

2018.12 - 2024.6
日本免疫不全・自己炎症学会 PIDJ委員会委員 Domestic

2018.4 - 2020.6
日本小児血液・がん学会血栓止血委員会委員 Domestic

2017.11 - Present
Councilor Domestic

2016.7 - Present
九州学校保健学会事務局 Domestic

2012.4 - 2013.3

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Academic Activities

座長

第125回日本小児科学会（郡山） 2022.4

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シンポジスト

第5回日本免疫不全・自己炎症学会 2022.2

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Screening of academic papers

Role(s)： Peer review

2022

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Number of peer-reviewed articles in foreign language journals：4

Number of peer-reviewed articles in Japanese journals：1

Proceedings of International Conference Number of peer-reviewed papers：0

Proceedings of domestic conference Number of peer-reviewed papers：0
シンポジスト

第32回日本小児科医会総会フォーラム（福岡（Web) ） 2021.6

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Type：Competition, symposium, etc.
シンポジスト

第4回日本免疫不全症・自己炎症学会 2021.2

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Type：Competition, symposium, etc.
座長

第4回日本原発性免疫不全症・自己炎症学会 2021.2

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Type：Competition, symposium, etc.
Screening of academic papers

Role(s)： Peer review

2021

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Type：Peer review

Number of peer-reviewed articles in foreign language journals：21

Number of peer-reviewed articles in Japanese journals：3

Proceedings of International Conference Number of peer-reviewed papers：0

Proceedings of domestic conference Number of peer-reviewed papers：0
シンポジスト

第30回日本産婦人科新生児血液学会（福岡（Web) ） 2020.12

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Type：Competition, symposium, etc.
Screening of academic papers

Role(s)： Peer review

2020

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Type：Peer review

Number of peer-reviewed articles in foreign language journals：9

Number of peer-reviewed articles in Japanese journals：2
Screening of academic papers

Role(s)： Peer review

2019

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Type：Peer review

Number of peer-reviewed articles in foreign language journals：13

Number of peer-reviewed articles in Japanese journals：1
座長（English session

第60回日本小児血液・がん学会学術集会（京都） 2018.11

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Type：Competition, symposium, etc.
シンポジスト

第80回日本血液学会学術集会（大阪） 2018.10

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Type：Competition, symposium, etc.
Screening of academic papers

Role(s)： Peer review

2018

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Type：Peer review

Number of peer-reviewed articles in foreign language journals：3

Number of peer-reviewed articles in Japanese journals：2
シンポジスト

第59回日本小児血液・がん学会（愛媛） 2017.11

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Type：Competition, symposium, etc.
シンポジスト

第49回小児感染症学会（金沢） 2017.10

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Type：Competition, symposium, etc.
Screening of academic papers

Role(s)： Peer review

2017

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Type：Peer review

Number of peer-reviewed articles in foreign language journals：1

Number of peer-reviewed articles in Japanese journals：0

Proceedings of International Conference Number of peer-reviewed papers：0

Proceedings of domestic conference Number of peer-reviewed papers：0
座長（Chairmanship）

日本小児科学会福岡地方会（福岡） 2015.6

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Type：Competition, symposium, etc.
座長（Chairmanship）

日本小児科学会福岡地方会（福岡市） 2012.6

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Type：Competition, symposium, etc.

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Research Projects

難治性EBウイルス関連疾患の新規感染細胞解析法による病態解明

Grant number：24K11047 2024.4 - 2027.3

科学研究費助成事業基盤研究(C)

石村匡崇, 保田朋波流, 園田素史

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Authorship：Principal investigator Grant type：Scientific research funding

フローサイトメトリーを用いてEBV感染細胞のLatencyを迅速に解析可能な方法を新たに開発した。
本研究では、ヒト細胞株で確立したEBVのLatency解析法をEBV持続感染の代表疾患であるCAEBV患者の末梢血リンパ球またはリンパ増殖性病変細胞で検討し、迅速なEBV感染細胞の同定・Latency評価法を確立する。更に、個々のEBV 感染細胞のLatency評価と臨床症状を比較することで、新たな観点からEBV関連疾患の病態解明を目指す。また、個々のEBV関連疾患患者のLatencyの変化を確認することで、難治性EBV関連疾患の発症と、適切な治療介入判断に臨床応用することを目的とする。

CiNii Research
極低出生体重児が患う合併症に影響する血栓性素因の探索

Grant number：22527276 2022 - 2024

日本学術振興会科学研究費助成事業基盤研究(C)

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Authorship：Coinvestigator(s) Grant type：Scientific research funding
極低出生体重児が患う合併症に影響する血栓性素因の探索

Grant number：22K07916 2022 - 2024

日本学術振興会科学研究費助成事業基盤研究(C)

落合正行, 井上普介, 澤野徹, 石村匡崇, 藤吉順子

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Authorship：Coinvestigator(s) Grant type：Scientific research funding

未熟児動脈管開存症、頭蓋内出血・脳室周囲白質軟化、壊死性腸炎、未熟児網膜症および気管支肺異形成は、極低出生体重児の主要合併症であり、救命と予後に影響する。これらの病態には、血管新生と血栓傾向が関与する。血栓形成には環境要因と血栓性素因の影響を受けて複合的に作用する。研究代表者らは新生児期の血栓性素因を網羅的に検索する遺伝子パネル検査を試作し、診断未確定の血栓症新生児で測定したところ、過去に報告がない血管障害に関連する遺伝子変異を検出した。遺伝性血栓症には抗凝固療法や補充療法で治療可能な疾患が含まれる。本研究により合併症ハイリスクが早期診断され、遺伝子特異的な新規治療法の適応が期待できる。

CiNii Research
乾燥ろ紙血プロテオーム解析を用いた原発性免疫不全症診断の効率化研究

Grant number：22582994 2022 - 2024

科学研究費助成事業国立研究開発法人日本医療研究開発機構難治性疾患等実用化研究事業　難治性疾患実用化研究事業

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
新規遺伝性自己炎症性疾患:ROSAH症候群(ALPK1変異)の病態解析と治療確立

Grant number：21K07847 2021 - 2023

日本学術振興会科学研究費助成事業基盤研究(C)

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Authorship：Principal investigator Grant type：Scientific research funding
新規遺伝性自己炎症性疾患:ROSAH症候群(ALPK1変異)の病態解析と治療確立

Grant number：21K07847 2021 - 2023

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
早期ライフステージにおける口腔マイクロバイオーム形成に影響を及ぼす因子の解明

Grant number：20H03901 2020 - 2022

日本学術振興会科学研究費助成事業基盤研究(B)

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Authorship：Coinvestigator(s) Grant type：Scientific research funding
早期ライフステージにおける口腔マイクロバイオーム形成に影響を及ぼす因子の解明

Grant number：20H03901 2020 - 2022

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
慢性肉芽腫症腸炎に対する小児サリドマイド性愛の実用化に関する研究

2019 - 2020

科学研究費助成事業日本医療研究開発機構　難治性疾患実用化研究事業 (AMED) 慢性肉芽腫症腸炎に対する小児サリドマイド性愛の実用化に関する研究

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
自己炎症性疾患とその類縁疾患の全国診療体制整備、重症度分類、診療ガイドライン確立

2018 - 2022

科学研究費助成事業厚生労働科学研究費補助金 (厚生労働省)

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
慢性活動性Epstein-Barrウイルス感染症に対するルキソリチニブの単剤療法の有効性、安全性に関する第II相試験（医師主導治験）

2018 - 2020

科学研究費助成事業 AMED

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
家族性地中海熱(FMF)に対するトシリズマブの医師主導治験

2018 - 2020

科学研究費助成事業日本医療研究開発機構　難治性疾患実用化研究事業 (AMED) シーズ探索研究から発展する家族性地中海熱(FMF)に対するトシリズマブの医師主導治験

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
シーズ探索研究から発展する家族性地中海熱（FMF）に対するトシリズマブの医師主導治験

2017.4 - 2020.3

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Authorship：Coinvestigator(s)
自己炎症性疾患とその類縁疾患の全国診療体制整備、重症度分類、診療ガイドライン確立に関する研究

2017.4 - 2019.3

京都大学大学院医学研究科

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Authorship：Coinvestigator(s)
新生児・乳児に発症する特発性血栓症の病態解明および治療管理法と根治療法の確立に関する研究

2017 - 2022

科学研究費助成事業日本医療研究開発機構　難治性疾患実用化研究事業（AMED）新生児・乳児に発症する特発性血栓症の病態解明および治療管理法と根治療法の確立に関する研究

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Authorship：Coinvestigator(s) Grant type：Competitive funding other than Grants-in-Aid for Scientific Research
宿主応答を累加した分子疫学的アプローチによる口腔マイクロバイオームの病原性解明

2016.4 - 2021.3

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Authorship：Coinvestigator(s)
宿主応答を累加した分子疫学的アプローチによる口腔マイクロバイオームの病原性解明

Grant number：16H02692 2016 - 2020

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
宿主応答を累加した分子疫学的アプローチによる口腔マイクロバイオームの病原性解明

Grant number：宿主応答を累加した分子疫学的アプローチによる口腔マイクロバイオームの病原性解明 2016 - 2019

日本学術振興会科学研究費助成事業基盤研究(A)

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Authorship：Coinvestigator(s) Grant type：Scientific research funding
X連鎖劣性遺伝性疾患女性患者由来iPS細胞を用いたX染色体不活化機構の解明

Grant number：X連鎖劣性遺伝性疾患女性患者由来iPS細胞を用いたX染色体不活化機構の解明 2015 - 2017

日本学術振興会科学研究費助成事業基盤研究(C)

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Authorship：Coinvestigator(s) Grant type：Scientific research funding
X連鎖劣性遺伝性疾患女性患者由来iPS細胞を用いたX染色体不活化機構の解明

Grant number：15K09655 2015 - 2017

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
全身型若年性特発性関節炎の早期診断法の確立

Grant number：15K19623 2015 - 2016

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
全身型若年性特発性関節炎の早期診断法の確立

Grant number：15K19623 2015 - 2016

科学研究費助成事業若手研究(B)

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Authorship：Principal investigator Grant type：Scientific research funding
壊死性リンパ節炎の非侵襲的早期診断法の開発

Grant number：25860868 2013 - 2015

科学研究費助成事業若手研究(B)

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Authorship：Principal investigator Grant type：Scientific research funding
壊死性リンパ節炎の非侵襲的早期診断法の開発

Grant number：25860868 2013 - 2014

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding
先天性凝固異常症に対する乳歯幹細胞を用いた免疫抑制/肝再生療法に関する基礎研究

2012.4 - 2013.3

個人研究

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Authorship：Principal investigator Grant type：Other funds from industry-academia collaboration
アデノAAVハイブリッドベクターを用いた造血幹細胞のBTK遺伝子修復研究

Grant number：21790996 2009 - 2011

日本学術振興会科学研究費助成事業基盤研究(C)

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Grant type：Scientific research funding

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Class subject

受胎・成長・発達

2022.4 - 2022.9 First semester
免疫・移植の臨床

2021.10 - 2022.3 Second semester
血液

2021.10 - 2022.3 Second semester
臨床遺伝学

2021.4 - 2022.3 Full year
医歯薬合同講義　病態制御学Ⅳ-②

2021.4 - 2021.9 First semester
アレルギー・膠原病

2021.4 - 2021.9 First semester
生命科学入門

2019.10 - 2020.3 Second semester

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Other educational activity and Special note

2018 Special Affairs

Outline of Social Contribution and International Cooperation activities

患者向け講演会を年に数回担当（血友病他）
医学部志望の高校生に対する見学受入れ
国際連携に関しては外国からのセカンドオピニオン対応および、診療担当を行っている

Social Activities

SSH見学/実習受入れ 2015年度より

福岡県立小倉高等学校 2018.9

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Audience： Infants,　Schoolchildren,　Junior students,　High school students

Type：Other
福岡市小児慢性特定疾病審査委員

福岡市 2018.4

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Audience： General,　Scientific,　Company,　Civic organization,　Governmental agency

Type：Other
福岡県指定難病審査委員

福岡県 2018.4

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Audience： General,　Scientific,　Company,　Civic organization,　Governmental agency

Type：Other
休日・夜間急患診療センターでの勤務を通じ、地域小児医療に貢献

地域医師会 2005.4

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Audience： General,　Scientific,　Company,　Civic organization,　Governmental agency

Type：Other

Specialized clinical area

Biology / Medicine, Dentistry and Pharmacy / Internal Medicine / Pediatrics

Clinician qualification

Specialist

Japan Pediatric Society
Preceptor

Japan Pediatric Society
Certifying physician

日本血栓止血学会
Preceptor

厚生労働省
Certifying physician

日本臨床免疫学会

Year of medical license acquisition

2003

Notable Clinical Activities

日本小児科学会専門医・指導医日本血栓止血学会認定医日本臨床免疫学会免疫療法認定医日本産婦人科新生児血液学会評議員日本小児血液・がん学会　血栓止血委員会委員　再生不良性貧血・MDS委員会委員