| 1. |
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, Clinical Features of Pediatric Uveitis at a Tertiary Referral Center in the Western Region of Japan., Ocular immunology and inflammation, 10.1080/09273948.2023.2273363, 1-7, 2023.11, 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 |
| 2. |
Motoshi Sonoda, Masataka Ishimura, Reina Ogata, Hirotsugu Oda, Shouichi Ohga, Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency., Journal of clinical immunology, 10.1007/s10875-023-01543-2, 2023.07. |
| 3. |
Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease.
A 13-year-old boy was admitted to our hospital because of persistent diarrhea, abdominal pain, and bloody stools. The patient had experienced repeated hospitalizations for the treatment of respiratory infections since early childhood. Colonoscopic and pathological studies led to a diagnosis of gut-associated T-cell lymphoproliferative disease (T-cell LPD). Laboratory data showed T-lymphocytopenia (492/µl), increased serum IgG levels (1,984 mg/dl), and low serum antibody titers for specific pathogens. Combined immunodeficiency accompanied by T-LPD suggested the diagnosis of activated PI3Kδ syndrome (APDS). Genetic analyses identified a heterozygous mutation of the PIK3CD gene (c.1573 G to A p.Glu525Lys). Although prednisolone and cyclosporine therapy has controlled the T-cell LPD, this patient awaits allogeneic hematopoietic cell transplantation to achieve a complete cure of his APDS.. |
| 4. |
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, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity., The Journal of experimental medicine, 10.1084/jem.20212276, 220, 9, 2023.09, 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.. |
| 5. |
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga, Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia, INTERNATIONAL JOURNAL OF HEMATOLOGY, 10.1007/s12185-018-2424-4, 108, 2, 228-231, 2018.08, Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.. |
| 6. |
Koji Kanno, Yoshiaki Cho, Shuichi Fujii, Yuki Ami, Osamu Nishizeki, Motoshi Sonoda, Masataka Ishimura, Naoki Fujiwara, Bruising Behind the Ears in a Neonate, JOURNAL OF PEDIATRICS, 10.1016/j.jpeds.2021.07.052, 239, 242-243, 2021.12. |
| 7. |
Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Yasunari Sakai, Kazunori Urabe, Shouichi Ohga, High-dose immunoglobulin therapy for steroid-resistant myositis in juvenile localized scleroderma., Pediatrics and neonatology, 10.1016/j.pedneo.2022.01.006, 2022.04. |
| 8. |
Kentaro Narazaki, Yusaku Nagatomo, Kiyoshi Uike, Motoshi Sonoda, Hazumu Nagata, Kenichiro Yamamura, Shouichi Ohga, Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG., Pediatrics international : official journal of the Japan Pediatric Society, 10.1111/ped.15500, e15500, 2023.02. |
| 9. |
Atsushi Tanaka, Yoshiaki Sakaguchi, Hirosuke Inoue, Naoki Egami, Yuri Sonoda, Motoshi Sonoda, Masataka Ishimura, Masayuki Ochiai, Taeko Hotta, Takeshi Uchiumi, Yasunari Sakai, Shouichi Ohga, Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome., Pediatric blood & cancer, 10.1002/pbc.30047, 70, 4, e30047, 2023.04. |
| 10. |
Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Motoshi Sonoda, Yoshihiro Azuma, Hiroyuki Yamamoto, Ken-Ichi Imadome, Shouichi Ohga, Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants., Frontiers in pediatrics, 10.3389/fped.2019.00183, 7, MAY, 183-183, 2019.05, X-linked lymphoproliferative disease (XLP) is one of the X-linked primary immunodeficiency diseases (PIDs) with defective immune response to Epstein-Barr virus (EBV) infection. Chronic active EBV infection (CAEBV) and EBV-hemophagocytic lymphohistiocytosis (HLH) are recognized as systemic EBV-positive T-cell and natural killer (NK)-cell lymphoproliferative diseases (LPDs) arising from the clonal proliferations of EBV-infected T cells and NK cells. A high incidence of CAEBV in East Asia implies the unknown genetic predisposition. In patients with XLP, EBV-infected cells are generally B cells. No mutation of SH2D1A/XIAP genes has ever been identified in patients with systemic EBV-positive T-cell and NK-cell LPD. We report herewith a male case of NK-cell type CAEBV with SH2D1A hypomorphic mutation (c.7G > T, p.Ala3Ser), two male cases of CAEBV/EBV-HLH with XIAP hypomorphic variant (c.1045_1047delGAG, p.Glu349del), and another female case of CD4+CAEBV with the same XIAP variant. The female underwent bone marrow transplantation from an HLA-matched sister with the XIAP variant and obtained a complete donor chimerism and a cure of laryngeal LPD lesion, but then suffered from donor-derived CD4+ T cell EBV-LPD. These observations demonstrated that SH2D1A and XIAP genes are critical for the complete regulation of EBV-positive T/NK cell LPD. X-linked lymphoproliferative disease (XLP) is one of the X-linked primary immunodeficiency diseases (PIDs) reported to have a defective immune response to Epstein-Barr virus (EBV) infection. Mutations in SH2D1A and XIAP genes cause XLP. Systemic EBV-positive T-cell and natural killer (NK)-cell lymphoproliferative diseases (LPDs) consist of three major types: EBV-positive hemophagocytic lymphohistiocytosis (HLH), chronic active EBV infection (CAEBV), and EBV-positive T-cell/NK-cell lymphoma. CAEBV is recognized as a poor prognostic disease of EBV-associated T-cell and NK-cell LPD arising from the clonal proliferation of EBV-infected T cells (CD4+, CD8+, and TCRγδ+) and/or NK cells. The majority of cases with CAEBV were reported from East Asia and South America. In Caucasian patients with CAEBV disease, the target of infection is exclusively B cells. These imply a genetic predisposition to EBV-positive T/NK cell LPD according to ethnicity. In reported cases with XLP, EBV-infected cells are B cells. On the other hand, no mutation of SH2D1A/XIAP genes have been determined in patients with T/NK-cell-type (Asian type) CAEBV. We here describe, for the first time, four case series of CAEBV/EBV-HLH patients who carried the hypomorphic variants of XLP-related genes. These cases included a male patient with CAEBV carrying SH2D1A hypomorphic mutation (c.7G > T, p.Ala3Ser) and two male patients with CAEBV/EBV-HLH carrying the XIAP hypomorphic variant (c.1045_1047delGAG, p.Glu349del), along with another female patient with CAEBV carrying the same XIAP variant. The female case underwent bone marrow transplantation from a healthy HLA-matched sister having the same XIAP variant. Although a complete donor chimerism was achieved with the resolution of laryngeal LPD lesions, systemic donor-derived CD4+ T-cell EBV-LPD developed during the control phase of intractable graft- vs. -host-disease. These observations demonstrated that SH2D1A and XIAP genes are critical for the complete regulation of systemic EBV-positive T/NK-cell LPD.. |
| 11. |
Toshihiko Kakiuchi, Katsuhide Eguchi, Daisuke Koga, Hiroi Eguchi, Masanori Nishi, Motoshi Sonoda, Masataka Ishimura, Muneaki Matsuo, Changes in bone marrow and peripheral blood lymphocyte subset findings with onset of hepatitis-associated aplastic anemia., Medicine, 10.1097/MD.0000000000028953, 101, 8, e28953, 2022.02, 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.. |
| 12. |
Vlad Tocan, Akari Inaba, Tamami Kurano, Motoshi Sonoda, Keiji Soebijanto, Hideki Nakayama, Severe Hemolytic Anemia Following Intravenous Immunoglobulin in an Infant With Kawasaki Disease., Journal of pediatric hematology/oncology, 10.1097/MPH.0000000000000704, 39, 2, e100-e102-E102, 2017.03, Severe hemolytic anemia (HA) is an uncommon adverse reaction of intravenous immunoglobulin (IVIg) administration. Previous reports assume that antibodies contained in IVIg preparations are the cause of hemolysis. We report a 10-month-old infant with Kawasaki disease who was treated with high-dose IVIg and developed severe HA. The patient's Rh blood type was D+C+c+E-e+. He developed anti-C and anti-e antibodies following treatment with IVIg, and, after considering all possible causes of hemolysis, we concluded that this was a case of autoimmune HA induced by immunoglobulin treatment. The hyperinflammatory condition associated with Kawasaki disease may have contributed to the severity of anemia.. |
| 13. |
Katsuhide Eguchi, Masataka Ishimura, Motoshi Sonoda, Hiroaki Ono, Akira Shiraishi, Shunsuke Kanno, Yuhki Koga, Hidetoshi Takada, Shouichi Ohga, Nontuberculous mycobacteria-associated hemophagocytic lymphohistiocytosis in MonoMAC syndrome., Pediatric blood & cancer, 10.1002/pbc.27017, 65, 7, e27017, 2018.07. |
| 14. |
Shunichi Adachi, Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Tamami Tanaka, Yoshitomo Motomura, Shouichi Ohga, Optimal biologics for juvenile idiopathic arthritis in an infection with SARS-CoV-2 α-variant., Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 10.1111/pai.13686, 33, 1, e13686, 2021.11. |
| 15. |
Takehiko Doi, Natsuko Masumoto, Motoshi Sonoda, Hideki Nakayama, Yuji Mizuno, Blue rubber bleb nevus syndrome with knee joint disorder., Pediatrics international : official journal of the Japan Pediatric Society, 10.1111/ped.12929, 58, 8, 740-3, 2016.08, Blue rubber bleb nevus syndrome (BRBNS) involves cutaneous vascular malformation characterized by multiple venous malformations. This commonly affects the skin and gastrointestinal tract. BRBNS is associated with anemia and occasionally involves orthopedic manifestations. A 6-year-old boy was referred to hospital for evaluation of anemia. He presented with a rubber-like soft-tissue mass in the left knee and the right side of the neck, recurrent pain, and fixed flexion contracture of the knee. Blood examination indicated consumption coagulopathy and anemia caused by not only iron-deficiency anemia but also microangiopathy. Endoscopy of the gastrointestinal tract indicated multiple bluish-black sessile venous malformations. Ultrasonography and magnetic resonance imaging of the knee showed intra-articular and intramuscular involvement. Based on these findings, BRBNS with knee joint disorder was diagnosed. With regard to vascular malformations, like other diseases such as inflammatory arthropathy, ultrasonography of the joint may become a new diagnostic approach for evaluating orthopedic manifestations.. |
| 16. |
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, Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection., Annals of clinical microbiology and antimicrobials, 10.1186/s12941-018-0282-9, 17, 1, 31-31, 2018.07, BACKGROUND: Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. pyogenes-purpura fulminans with literature review of the disease. CASE PRESENTATION: A 3-year-old boy showed limping, lethargy and acral gangrene within 24 h. A diagnosis of S. pyogenes-purpura fulminans was made for bacterial isolation from throat and peripheral blood. Intensive therapy led to a survival with amputation of the left distal metatarsal bone, and normal development. The isolated M12 carried no mutation of csrS/R or rgg. Thrombophilia or immunodeficiency was excluded. DISCUSSION: Twelve-reported cases (9 pediatric and 3 elderly) of S. pyogenes-purpura fulminans started with shock and coagulopathy. Five patients age |
| 17. |
Tetsuko Kobayashi, Yuhki Koga, Masataka Ishimura, Kentaro Nakashima, Wakako Kato, Hiroaki Ono, Motoshi Sonoda, Katsuhide Eguchi, Reiji Fukano, Satoshi Honjo, Yoshinao Oda, Shouichi Ohga, Fever and Skin Involvement at Diagnosis Predicting the Intractable Langerhans Cell Histiocytosis: 40 Case-Series in a Single Center., Journal of pediatric hematology/oncology, 10.1097/MPH.0000000000001080, 40, 3, e148-e153-E153, 2018.04, Langerhans cell histiocytosis (LCH) occurs as a clonal disease with enigmatic immune responses. LCH patients occasionally present with fever, although the significance remains elusive. We investigated the predicting factors for developing intractable disease of refractory and/or reactivated LCH. In total, 40 pediatric LCH patients managed in Kyushu University from 1998 to 2014 were enrolled. The medical records were analyzed retrospectively. Sixteen patients suffered from multisystem (MS) LCH involving risk organs (ROs) (n=4) or not (n=12). In total, 24 patients had single-system LCH affecting bone (multi n=8, single n=13), skin (n=2), or lymph node lesions (n=1). Eight patients had the intractable disease of 7 MS or 1 multibone LCH. Two patients died from MS LCH with or without RO involvement. Ten patients showed persistent fever (>38°C) at onset. Intractable cases had fever, RO and skin involvement, leukocytosis, coagulopathy, microcytic anemia, higher levels of soluble interleukin-2 receptor and C-reactive protein, more frequently at diagnosis. Multivariate analysis indicated that fever and skin lesions at diagnosis were independently associated with the intractability (odds ratio: fever, 35.5; 95% confidence interval, 3.0-1229.1; skin lesions, 24.6; 95% confidence interval, 1.9-868.7). Initial fever and skin involvement might predict the development of intractable and fatal-risk LCH even without the RO involvement.. |
| 18. |
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga, Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia., International journal of hematology, 10.1007/s12185-018-2493-4, 108, 2, 236-236, 2018.08, The corresponding author should be ''Masataka Ishimura'', and not ''Motoshi Sonoda'' as given in the original publication of the article.. |
| 19. |
Maiko Noguchi, Hiroshi Moritake, Sachiyo Kamimura, Motoshi Sonoda, Masataka Ishimura, Jiro Inagaki, Adalimumab for treatment of hemophagocytic syndrome following unrelated bone marrow transplantation in a boy with Behcet's disease and secondary myelodysplastic syndrome., Bone marrow transplantation, 10.1038/s41409-018-0180-y, 53, 9, 1214-1217, 2018.09. |
| 20. |
Yasuaki Hagio, Akira Shiraishi, Masataka Ishimura, Motoshi Sonoda, Katsuhide Eguchi, Hidetaka Yamamoto, Yoshinao Oda, Shouichi Ohga, Posttransplant recipient-derived CD4+ T-cell lymphoproliferative disease in X-linked hyper-IgM syndrome., Pediatric blood & cancer, 10.1002/pbc.27529, 66, 3, e27529, 2019.03. |
| 21. |
Yuko Ichimiya, Motoshi Sonoda, Masataka Ishimura, Shunsuke Kanno, Shouichi Ohga, Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency., Journal of clinical immunology, 10.1007/s10875-019-00626-3, 39, 3, 264-266, 2019.04. |
| 22. |
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, Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis., International journal of hematology, 10.1007/s12185-019-02738-3, 111, 1, 131-136, 2020.01, Hemophagocytic lymphohistiocytosis (HLH) occurs in neonates with disseminated infection of herpes simplex virus (HSV). Little has been reported on the control of rapid HLH progression. We studied the cytokine profile and genetic basis of two index cases with divergent outcomes after early treatment of type 2 HSV infection. One survivor had fever and elevated serum levels of tumor necrosis factor (TNF)-α, interleukin-6 (IL-6), interferon (IFN)-β, and IFN-γ at diagnosis. The other neonate had no fever or TNF-α production, but significant IL-6 or IFN responses during the treatment course, and died 19 days after birth. Among 16 reported cases of neonatal HSV-HLH including index cases, eight deceased neonates experienced significantly less fever at presentation (p = 0.028), lower platelet counts (p = 0.019), and lower ratios of soluble IL-2 receptor (sIL-2R) to ferritin levels (p = 0.044) than eight survivors. The 100-day overall survival rates were significantly higher in patients with fever (p = 0.004), > 100 × 109/L of platelet counts (p = 0.035) or > 20 of sIL-2R/ferritin ratio at diagnosis (p = 0.004). The first febrile and cytokine responses to HSV infection predict the early outcome of neonatal HSV-HLH.. |
| 23. |
Keishiro Kinoshita, Yoshito Ishizaki, Hiroyuki Yamamoto, Motoshi Sonoda, Kousuke Yonemoto, Ryutaro Kira, Masafumi Sanefuji, Akihiko Ueda, Hirotaka Matsui, Yukio Ando, Yasunari Sakai, Shouichi Ohga, De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature., European journal of medical genetics, 10.1016/j.ejmg.2019.103825, 63, 4, 103825-103825, 2020.04, BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations. CASE REPORT: We report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge. RESULTS: Targeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy. CONCLUSIONS: This case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.. |
| 24. |
Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Yutaro Yada, Nina Lenhartová, Akira Shiraishi, Tamami Tanaka, Yasunari Sakai, Shouichi Ohga, Progressive B cell depletion in human MALT1 deficiency., Clinical and experimental immunology, 10.1111/cei.13662, 206, 3, 237-247, 2021.09, Mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1)-deficiency is a rare combined immunodeficiency characterized by recurrent infections, dermatitis and enteropathy. We herein investigate the immunological profiles of our patient and previously reported children with MALT1-deficiency. A mutation analysis was performed by targeted panel sequencing for primary immunodeficiency. Lymphocyte subset, activation and B cell differentiation were analyzed by flow cytometry and t-distributed stochastic neighbor embedding. Pneumocystis pneumonia developed in a 6-month-old Japanese infant with atopic dermatitis, enteritis and growth restriction. This infant showed agammaglobulinemia without lymphopenia. At 8 years of age, the genetic diagnosis of MALT1-deficiency was confirmed on a novel homozygous mutation of c.1102G>T, p.E368X. T cell stimulation tests showed impairments in the production of interleukin-2, phosphorylation of nuclear factor kappa B (NF-κB) p65 and differentiation of B cells. In combination with the literature data, we found that the number of circulatory B cells, but not T cells, were inversely correlated with the age of patients. The hematopoietic cell transplantation (HCT) successfully reconstituted the differentiation of mature B cells and T cells. These data conceptualize that patients with complete MALT1-deficiency show aberrant differentiation and depletion of B cells. The early diagnosis and HCT lead to a cure of the disease phenotype associated with the loss-of-function mutations in human CARD11.. |
| 25. |
Yuri Sonoda, Motoshi Sonoda, Kousuke Yonemoto, Masafumi Sanefuji, Ryoji Taira, Yoshitomo Motomura, Masataka Ishimura, Hiroyuki Torisu, Ryutaro Kira, Koichi Kusuhara, Yasunari Sakai, Shouichi Ohga, Favorable outcomes of interferon-α and ribavirin treatment for a male with subacute sclerosing panencephalitis., Journal of neuroimmunology, 10.1016/j.jneuroim.2021.577656, 358, 577656-577656, 2021.09, 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.. |
| 26. |
Koji Kanno, Yoshiaki Cho, Shuichi Fujii, Yuki Ami, Osamu Nishizeki, Motoshi Sonoda, Masataka Ishimura, Naoki Fujiwara, Ecthyma Gangrenosum in an Infant with Interleukin-1 Receptor-Associated Kinase 4 Deficiency., The Journal of pediatrics, 10.1016/j.jpeds.2021.08.015, 239, 241-242, 2021.08. |
| 27. |
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, Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism: A Nationwide Study in Japan., The Journal of pediatrics, 10.1016/j.jpeds.2021.07.001, 238, 259-267, 2021.07, OBJECTIVE: To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan. STUDY DESIGN: A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treatment, and outcome of patients who developed thromboembolism within 28 days of birth from 2014 to 2018. RESULTS: The estimated incidence of neonatal-thromboembolism was 0.39 cases per 10 000 live births. Intracranial lesions and purpura fulminans occurred in 66 and 5 of 77 patients, respectively. Fifty-eight (75.3%) infants presented within 3 days after birth. Four (5.2%) died, and 14 (18.2%) survived with disability. At the diagnosis, |
