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Nobutaka Harada, Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Keishiro Kinoshita, Wakato Matsuoka, Yoshitomo Motomura, Noriyuki Kaku, Naoki Kawaguchi, Takami Takeuchi, Shouichi Ohga, Pretransplant ribavirin and interferon-α therapy for rhinovirus interstitial pneumonia in a RAG1-deficient infant., Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 10.1016/j.jiac.2023.11.003, 2023.11, 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.. |
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園田 素史, 石村 匡崇, 江口 克秀, 矢田 裕太郎, 白石 暁, 大賀 正一, The clinical expression and treatment of MALT1 deficiency due to a novel nonsense mutation(和訳中), 日本血液学会学術集会, Vol.83回, pp.OS3-3, 2021.09. |
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勝屋 弘雄, 岡本 翔, 嬉野 博志, 江里口 誠, 城戸口 啓介, 園田 素史, 江口 克秀, 久保田 寧, 安藤 寿彦, 甲斐 敬太, 石村 匡崇, 木村 晋也, Abatacept is a promising agent for severe autoimmune symptoms in CTLA-4 haploinsufficient patients(和訳中), 日本血液学会学術集会, Vol.83回, pp.OS3-2, 2021.09. |
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園田 素史, 石村 匡崇, 大賀 正一, 高田 英俊, 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), 日本小児血液・がん学会雑誌, Vol.52, No.4, p.258, 2015.10. |
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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, 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), 臨床血液, Vol.59, No.9, p.1691, 2018.09. |
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森谷 邦彦, 中野 智太, 本田 吉孝, 園田 素史, 津村 弥来, 内田 崇, 石村 匡崇, 井澤 和司, 角田 文彦, 虻川 大樹, 八角 高裕, 岡田 賢, 大賀 正一, 笹原 洋二, 呉 繁夫, RelAの優性阻害変異により,自己炎症や自己免疫疾患をきたす(Dominant negative RelA mutation causes autoinflammatory and autoimmune disorders), 日本小児科学会雑誌, Vol.125, No.2, p.301, 2021.02. |
