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  1. C100 医学部/医学系研究科
  2. C100a 雑誌掲載論文
  3. 学術雑誌

Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor

http://hdl.handle.net/2237/0002002098
http://hdl.handle.net/2237/0002002098
5f5bab25-53f6-4652-b7a8-00c98a0f8ddc
名前 / ファイル ライセンス アクション
CM_FinalFile_PSMB9_manuscript.pdf CM_FinalFile_PSMB9_manuscript.pdf (1.8 MB)
Item type itemtype_ver1(1)
公開日 2022-02-14
タイトル
タイトル Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
言語 en
著者 Kataoka, Shinsuke

× Kataoka, Shinsuke

en Kataoka, Shinsuke

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Kawashima, Nozomu

× Kawashima, Nozomu

en Kawashima, Nozomu

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Okuno, Yusuke

× Okuno, Yusuke

en Okuno, Yusuke

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Muramatsu, Hideki

× Muramatsu, Hideki

en Muramatsu, Hideki

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Miwata, Shunsuke

× Miwata, Shunsuke

en Miwata, Shunsuke

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Narita, Kotaro

× Narita, Kotaro

en Narita, Kotaro

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Hamada, Motoharu

× Hamada, Motoharu

en Hamada, Motoharu

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Murakami, Norihiro

× Murakami, Norihiro

en Murakami, Norihiro

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Taniguchi, Rieko

× Taniguchi, Rieko

en Taniguchi, Rieko

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Ichikawa, Daisuke

× Ichikawa, Daisuke

en Ichikawa, Daisuke

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Kitazawa, Hironobu

× Kitazawa, Hironobu

en Kitazawa, Hironobu

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Suzuki, Kyogo

× Suzuki, Kyogo

en Suzuki, Kyogo

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Nishikawa, Eri

× Nishikawa, Eri

en Nishikawa, Eri

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Narita, Atsushi

× Narita, Atsushi

en Narita, Atsushi

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Nishio, Nobuhiro

× Nishio, Nobuhiro

en Nishio, Nobuhiro

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Yamamoto, Hidenori

× Yamamoto, Hidenori

en Yamamoto, Hidenori

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Fukasawa, Yoshie

× Fukasawa, Yoshie

en Fukasawa, Yoshie

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Kato, Taichi

× Kato, Taichi

en Kato, Taichi

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Yamamoto, Hiroyuki

× Yamamoto, Hiroyuki

en Yamamoto, Hiroyuki

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Natsume, Jun

× Natsume, Jun

en Natsume, Jun

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Kojima, Seiji

× Kojima, Seiji

en Kojima, Seiji

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Nishino, Ichizo

× Nishino, Ichizo

en Nishino, Ichizo

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Taketani, Takeshi

× Taketani, Takeshi

en Taketani, Takeshi

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Ohnishi, Hidenori

× Ohnishi, Hidenori

en Ohnishi, Hidenori

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Takahashi, Yoshiyuki

× Takahashi, Yoshiyuki

en Takahashi, Yoshiyuki

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利
言語 en
権利情報 © 2021. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
キーワード
主題Scheme Other
主題 JAK inhibitor
キーワード
主題Scheme Other
主題 interferonopathy
キーワード
主題Scheme Other
主題 pulmonary hypertension
キーワード
主題Scheme Other
主題 proteasome subunit beta type 9 (PSMB9)
内容記述
内容記述 Background: Type I interferonopathies are a recently established subgroup of autoinflammatory diseases caused by mutations in genes associated with proteasome degradation or cytoplasmic RNA- and DNA-sensing pathways. Objective: This study aimed to unveil the molecular pathogenesis of a patient with novel type I interferonopathy, for which no known genetic mutations have been identified. Methods: We performed the whole-exome sequencing of a 1-month-old boy with novel type I interferonopathy. We also investigated proteasome activities using patient-derived B lymphoblastoid cell lines (LCLs) and normal LCLs transduced with the mutant gene. Results: Whole-exome sequencing identified a de novo proteasome 20S subunit beta 9 (PSMB9) p.G156D mutation in the patient who developed fever, a chilblain-like skin rash, myositis, and severe pulmonary hypertension due to the hyperactivation of IFN-α. Patient-derived LCLs revealed reduced proteasome activities, and exogenous transduction of mutant PSMB9 p.G156D into normal LCLs significantly suppressed proteasome activities, and the endogenous PSMB9 protein was lost along with the reduction of other immunoproteasome subunits, PSMB8 and PSMB10 proteins. He responded to the administration of a Janus kinase inhibitor, tofacitinib, and he was successfully withdrawn from venoarterial extracorporeal membranous oxygenation. At age 7 months, he received an unrelated cord blood transplantation. At 2 years posttransplantation, he no longer required tofacitinib and experienced no disease recurrence. Conclusions: We present the case of a patient with a novel type I interferonopathy caused by a de novo PSMB9 p.G156D mutation that suppressed the wild-type PSMB9 protein expression. Janus kinase inhibitor and stem cell transplantation could be curative therapies in patients with severe interferonopathies.
言語 en
内容記述タイプ Abstract
出版者
言語 en
出版者 Elsevier
言語
言語 eng
資源タイプ
資源タイプresource http://purl.org/coar/resource_type/c_6501
タイプ journal article
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
関連情報
関連タイプ isVersionOf
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.jaci.2021.03.010
収録物識別子
収録物識別子タイプ PISSN
収録物識別子 0091-6749
書誌情報 en : Journal of Allergy and Clinical Immunology

巻 148, 号 2, p. 639-644, 発行日 2021-08
ファイル公開日
日付 2022-08-01
日付タイプ Available
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