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Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to viruses

Research Project

Project/Area Number 23K24302
Project/Area Number (Other) 22H03041 (2022-2023)
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeMulti-year Fund (2024)
Single-year Grants (2022-2023)
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionHiroshima University

Principal Investigator

岡田 賢  広島大学, 医系科学研究科(医), 教授 (80457241)

Co-Investigator(Kenkyū-buntansha) 小原 收  公益財団法人かずさDNA研究所, その他部局等, 副所長 (20370926)
溝口 洋子  広島大学, 医系科学研究科(医), 助教 (30750533)
津村 弥来  広島大学, 医系科学研究科(医), 研究員 (80646274)
Project Period (FY) 2022-04-01 – 2025-03-31
Project Status Granted (Fiscal Year 2024)
Budget Amount *help
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2024: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2023: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2022: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Keywords原発性免疫不全症 / ウイルス / I型インターフェロン / STAT1 / 易感染性 / インターフェロン過剰 / RelA / 中和抗体 / 自己抗体 / 遺伝子異常
Outline of Research at the Start

本研究では、ウイルスに対して易感染性を示すPIDに着目し、その病因病態解明を行う。既知遺伝子の解析で原因不明の該当患者に対し、全エクソーム解析、ターゲットRNAシーケンスを併用した網羅的解析による新規責任遺伝子の同定を行う。DNA、RNAを対象とした包括的な解析と、個別のタンパク質(抗I型IFN抗体、STAT1分子)に着目した詳細な解析を展開し、『I型IFNの障害によるウイルス易感染性』という疾患概念を確立する。

Outline of Annual Research Achievements

原発性免疫不全症(PID)は、宿主免疫の障害により多様な病原体に対して易感染性を示す疾患で、その多くは単一遺伝子の異常により発症する。過去に400を超える責任遺伝子が同定され、それに基づいて病態解明が行われてきた。その結果、遺伝子診断はPID患者の診断確定のみならず、治療法の選択にも重要な役割を担うようになった。
本研究では、I型インターフェロンに着目してPIDの病因病態解明に取り組んだ。その結果、I型インターフェロン過剰状態を示す患者において、RELA遺伝子異常を同定することができた。RelAは、その半量不全によりベーチェット病様の症状を示すことが知られていたが、同定した患者は既報告例と比較して重篤な症状を示した。詳細な機能解析を行ったところ、同定した変異は優性阻害効果を示すことが判明し、新規のPIDとして『優性阻害効果によるRelA異常症』の疾患概念を確立し論文報告した(Moriya K, et al. J Exp Med., 2023)。その後も病態解明研究に取り組むことで、優性阻害効果を呈するRELA変異と、半量不全効果を示すRELA変異との間に一定の法則性が存在することが判明し、論文化に向けた作業を行っている。
並行して、STAT1機能獲得型変異の背景に存在する分子病態の解析を行った。STAT1機能獲得型変異は、その過剰なリン酸化を背景に過剰なシグナル伝達を示す。詳細な解析の結果、STAT1機能獲得型変異はホスファターゼによる脱リン酸化に抵抗性を示すことを明らかとし、近日中に論文投稿の予定である。

Current Status of Research Progress
Current Status of Research Progress

1: Research has progressed more than it was originally planned.

Reason

国際共同研究(COVID Human Genetic Effort)に参加し、I型インターフェロンに関連する分子群の異常によるウイルス感染の重症化の実態を調査した。その結果、MyD88やIRAK-4が先天的に障害されたPID患者は、SARS-CoV-2感染症が高率に重症化することを明らかとした。また、COVID-19で致死的経過をたどった小児例2例において、STAT1機能獲得型変異の同定にも成功した。STAT1はインターフェロンのシグナル伝達を担う分子であり、その過剰活性化がCOVID-19重症化に密接に関連する示唆的な症例として論文報告を行った。また、肺線維症で致死的経過をたどった幼児例でIFIH1機能獲得型変異を同定した。IFIH1機能獲得型変異はI型インターフェロン過剰をきたすことが知られており、I型インターフェロン過剰が病態の中核を担うことを示唆する教訓的症例として論文報告した。
常染色体顕性RelA異常症の解析では、優性阻害効果を呈するRELA変異(I型インターフェロン過剰を示す)と、半量不全効果を示すRELA変異との間の法則性を発見しており、現在論文作成中である。また、STAT1機能獲得型変異の分子病態の解析も順調に進んでいる。STAT1に結合する2つの脱リン酸化酵素を見いだし、STAT1機能獲得型変異はこれらの脱リン酸化酵素に抵抗性を示すことを発見した(論文作成中)。一連の進捗状況を加味して、当初の計画以上に進展していると判断した。

Strategy for Future Research Activity

ウイルス感染で重篤化した患者を対象にした網羅的遺伝子解析、I型インターフェロン中和抗体の測定を継続し、I型インターフェロンとウイルス易感染性との関連性を調査する。特に、COVID-19の重症例おけるI型インターフェロン障害の検討は、社会的インパクトも大きいため重要課題として継続して取り組む。並行して、COVID-19以外のウイルス感染(インフルエンザなど)で重症化した症例においても、同様の解析を行う。特にPID患者では同中和抗体の保有頻度が高いことが判明しており、特定の分子異常によるPIDと同中和抗体の保有率の関係性についても調査する。
他方で、I型インターフェロンの過剰も宿主に対して有害であることが知られている。実際、本研究を介して肺線維症で致死的経過をたどった幼児例でIFIH1機能獲得型変異の同定に成功している。そこで、持続的なⅠ型インターフェロンの過剰産生を中心病態とするメンデル遺伝性疾患であるインターフェロノパチーの病態解析にも取り組む。STAT1機能獲得型変異でも、STAT1を介する過剰なシグナル伝達がインターフェロノパチーを引き起こす。これまでの研究で、STAT1機能獲得型変異は脱リン酸化酵素に対して抵抗性を示すことが判明しており、研究成果をまとめて論文化に取り組む。RelA異常症の解析についても論文執筆作業が進んでおり、期間中の論文化を目指す。並行して、I型インターフェロノパチーの患者を対象に網羅的遺伝子解析を実施し、責任遺伝子の同定を介してその病態解明にも取り組む。

Report

(2 results)
  • 2023 Annual Research Report
  • 2022 Annual Research Report
  • Research Products

    (48 results)

All 2024 2023 2022 Other

All Int'l Joint Research (10 results) Journal Article (25 results) (of which Int'l Joint Research: 14 results,  Peer Reviewed: 25 results,  Open Access: 16 results) Presentation (7 results) (of which Int'l Joint Research: 4 results,  Invited: 7 results) Remarks (6 results)

  • [Int'l Joint Research] Rockefeller University/Mount Sinai/NIH(米国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] INSERM/Imagine Institute/Necker Hospital for Sick Children(フランス)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Garvan Institute of Medical Research(オーストラリア)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Fudan University/Chongqing Medical University/Peking University(中国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Imperial College London(英国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Rockefeller University/Mount Sinai/Helix Population Genomics(米国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] INSERM/Imagine Institute/Necker Hospital for Sick Children(フランス)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Garvan Institute of Medical Research(オーストラリア)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Fudan University(中国)

    • Related Report
      2022 Annual Research Report
  • [Journal Article] Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children2024

    • Author(s)
      Bastard Paul、Gervais Adrian、Taniguchi Maki、Saare Liisa、Sarekannu Karita、Le Voyer Tom、Philippot Quentin、Rosain Jeremie、Bizien Lucy、Asano Takaki、、、、、Okada Satoshi、Puel Anne、Cobat Aurelie、Casanova Jean-Laurent、COVID Clinicians、GEN-COVID Study Group、COVID Human Genetic Effort
    • Journal Title

      Journal of Experimental Medicine

      Volume: 221 Issue: 2

    • DOI

      10.1084/jem.20231353

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency2024

    • Author(s)
      Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzman Cotaya R, Okada S, et al.
    • Journal Title

      Pediatric Allergy and Immunology

      Volume: 35 Issue: 2

    • DOI

      10.1111/pai.14073

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality2023

    • Author(s)
      Unuma Kana、Tomomasa Dan、Noma Kosuke、Yamamoto Kouhei、Matsuyama Taka-aki、Makino Yohsuke、Hijikata Atsushi、Wen Shuheng、Ogata Tsutomu、Okamoto Nobuhiko、Okada Satoshi、Ohashi Kenichi、Uemura Koichi、Kanegane Hirokazu
    • Journal Title

      Frontiers in Immunology

      Volume: 14 Pages: 1121059-1121059

    • DOI

      10.3389/fimmu.2023.1121059

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis2023

    • Author(s)
      Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S
    • Journal Title

      PNAS Nexus

      Volume: 2 Issue: 4 Pages: 1-12

    • DOI

      10.1093/pnasnexus/pgad104

    • Related Report
      2023 Annual Research Report 2022 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 22023

    • Author(s)
      Nguyen Tina、Lau Anthony、Bier Julia、Cooke Kristen C.、Lenthall Helen、Ruiz-Diaz Stephanie、Avery Danielle T.、Brigden Henry、Zahra David、Sewell William A、Droney Luke、Okada Satoshi、Asano Takaki、et al.
    • Journal Title

      Journal of Experimental Medicine

      Volume: 220 Issue: 6

    • DOI

      10.1084/jem.20221020

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH12023

    • Author(s)
      Kida Yoshiko、Doi Takehiko、Imanaka Yusuke、Amatya Vishwa Jeet、Shime Nobuaki、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 43 Issue: 6 Pages: 1143-1146

    • DOI

      10.1007/s10875-023-01494-8

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity2023

    • Author(s)
      Moriya Kunihiko、Nakano Tomohiro、Honda Yoshitaka、Tsumura Miyuki、Ogishi Masato、、、Izawa Kazushi、Asano Takaki、Kakuta Fumihiko、Abukawa Daiki、、、Boisson Bertrand、Puel Anne、Casanova Jean-Laurent、Nishikomori Ryuta、Ohga Shouichi、Okada Satoshi、Sasahara Yoji、Kure Shigeo
    • Journal Title

      Journal of Experimental Medicine

      Volume: 220 Issue: 9

    • DOI

      10.1084/jem.20212276

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study2023

    • Author(s)
      Kanegane Hirokazu、Ishimura Masataka、Kawai Toshinao、Okada Satoshi、Okamatsu Nobuaki、Go Madoka、Noto Shinichi
    • Journal Title

      Frontiers in Immunology

      Volume: 14 Pages: 1244250-1244250

    • DOI

      10.3389/fimmu.2023.1244250

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical significance of human neutrophil antigen-1 antibodies in children with neutropenia2023

    • Author(s)
      Goda Satoshi、Karakawa Shuhei、Okada Satoshi、Kawaguchi Hiroshi、Kurita Emi、Noma Mitsunori、Yamaoka Aiko、Komatsu Mayumi、Yanai Ayaka、Kashihara Mayu、Fujii Teruhisa、Onodera Rie、Taniguchi Kikuyo、Aizawa Mika、Kobayashi Masao
    • Journal Title

      International Journal of Hematology

      Volume: 118 Issue: 5 Pages: 627-635

    • DOI

      10.1007/s12185-023-03661-4

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function2023

    • Author(s)
      Kaneko Shuya、Sakura Fumiaki、Tanita Kay、Shimbo Asami、Nambu Ryusuke、Yoshida Masashi、Umetsu Shuichiro、Inui Ayano、Okada Chizuru、Tsumura Miyuki、Yamada Mamiko、Suzuki Hisato、Kosaki Kenjiro、Ohara Osamu、Shimizu Masaki、Morio Tomohiro、Okada Satoshi、Kanegane Hirokazu
    • Journal Title

      Immunotherapy Advances

      Volume: 3 Issue: 1

    • DOI

      10.1093/immadv/ltad027

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function2023

    • Author(s)
      Staines-Boone Aide Tamara、Vignesh Pandiarajan、Tsumura Miyuki、de la Garza Fernandez German、Tyagi Reva、Rawat Amit、Das Jhumki、Tomomasa Dan、Asano Takaki、Hijikata Atsushi、Salazar-Galvez Yuridia、Kanegane Hirokazu、Okada Satoshi、Reyes Saul O Lugo
    • Journal Title

      Journal of Clinical Immunology

      Volume: 44 Issue: 1 Pages: 20-20

    • DOI

      10.1007/s10875-023-01634-0

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC2023

    • Author(s)
      Noma Kosuke、Tsumura Miyuki、Nguyen Tina、Asano Takaki、Sakura Fumiaki、Tamaura Moe、Imanaka Yusuke、Mizoguchi Yoko、Karakawa Shuhei、Hayakawa Seiichi、Shoji Takayo、Hosokawa Junichi、Izawa Kazushi、Ling Yun、Casanova Jean-Laurent、Puel Anne、Tangye Stuart G.、Ma Cindy S.、Ohara Osamu、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 44 Issue: 1 Pages: 18-18

    • DOI

      10.1007/s10875-023-01601-9

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research2023

    • Author(s)
      Asano Takaki、Noma Kosuke、Mizoguchi Yoko、Karakawa Shuhei、Okada Satoshi
    • Journal Title

      Immunological Reviews

      Volume: 322 Issue: 1 Pages: 81-97

    • DOI

      10.1111/imr.13300

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria2023

    • Author(s)
      Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, …, Okada S, et al.
    • Journal Title

      Science Immunology

      Volume: 8 Issue: 80

    • DOI

      10.1126/sciimmunol.abq5204

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies2022

    • Author(s)
      Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S,・・・, Tsumura M, et al
    • Journal Title

      Proceedings of the National Academy of Sciences

      Volume: 119 Issue: 21

    • DOI

      10.1073/pnas.2200413119

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency2022

    • Author(s)
      Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, ...; COVID Human Genetic Effort (group author: Satoshi Okada), Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT.
    • Journal Title

      Journal of Experimental Medicine

      Volume: 219 Issue: 7

    • DOI

      10.1084/jem.20220202

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells2022

    • Author(s)
      Yang R, Avery DT, Jackson KJL, Ogishi M, Benhsaien I, Du L, Ye X, Han J, Rosain J, Peel JN, Alyanakian MA, Neven B, Winter S, Puel A, Boisson B, Payne KJ, Wong M, Russell AJ, Mizoguchi Y, . et al.
    • Journal Title

      Science Immunology

      Volume: 7 Issue: 73 Pages: 3277-3290

    • DOI

      10.1126/sciimmunol.abq3277

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia2022

    • Author(s)
      Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort (group author), et al.
    • Journal Title

      Journal of Experimental Medicine

      Volume: 219 Issue: 8

    • DOI

      10.1084/jem.20220131

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.2022

    • Author(s)
      Miyamoto T, Honda Y, Izawa K, Kanazawa N, Saito MK, Takita J, Nishikomori R, Yasumi T, et al.
    • Journal Title

      Front Immunol

      Volume: 13 Pages: 905960-905960

    • DOI

      10.3389/fimmu.2022.905960

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis2022

    • Author(s)
      Bolze A, Mogensen TH, Zhang SY, Abel L, Andreakos E, Arkin LM, Borghesi A, Brodin P, Hagin D, Novelli G, Okada S, Peter J, Renia L, Severe K, Tiberghien P, Vinh DC; COVID human genetic effort, Cirulli ET, Casanova JL, Hsieh EWY.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1354-1359

    • DOI

      10.1007/s10875-022-01372-9

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination2022

    • Author(s)
      Nishibayashi H, Kishimoto S, Sekiguchi K, Okada S, Ihara K.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1351-1353

    • DOI

      10.1007/s10875-022-01360-z

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-192022

    • Author(s)
      Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1360-1370

    • DOI

      10.1007/s10875-022-01308-3

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Mendelian susceptibility to mycobacterial diseases: state-of-the-art2022

    • Author(s)
      Noma Kosuke、Mizoguchi Yoko、Tsumura Miyuki、Okada Satoshi
    • Journal Title

      Clinical Microbiology and Infection

      Volume: - Issue: 11 Pages: 00143-4

    • DOI

      10.1016/j.cmi.2022.03.004

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs2022

    • Author(s)
      Bastard P, Vazquez S, Liu J, Laurie MT, Wang CY, Gervais A, Le Voyer T, Bizien L, Zamecnik C, Philippot Q, Rosain J, Catherinot E, Willmore A, Mitchell AM, Bair R, Garcon P, Kenney H, Fekkar A, , …; COVID HGE consortium (group author); …, Casanova JL, DeRisi JL.
    • Journal Title

      Science Immunology

      Volume: 7 Issue: 90

    • DOI

      10.1126/sciimmunol.abp8966

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases2022

    • Author(s)
      Ono R, Tsumura M, Shima S, Matsuda Y, Gotoh K, Miyata Y, Yoto Y, Tomomasa D, Utsumi T, Ohnishi H, Kato Z, Ishiwada N, Ishikawa A, Wada T, Uhara H, Nishikomori R, Hasegawa D, Okada S, Kanegane H.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 43 Issue: 2 Pages: 466-478

    • DOI

      10.1007/s10875-022-01396-1

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] PIDJ の仕組みと遺伝子検査の出し方2024

    • Author(s)
      岡田 賢
    • Organizer
      JSIAD-APSID joint meeting
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Severe COVID-19 associate with impaired host immunity2023

    • Author(s)
      Satoshi Okada
    • Organizer
      Human Genetics Asia 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 宿主免疫異常によるCOVID-19重症化2023

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本小児感染症学会総会・学術集会
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] Mendelian susceptibility to mycobacterial diseases2023

    • Author(s)
      Satoshi Okada
    • Organizer
      NTM Host Research Consortium International Workshop
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Defective type I interferon in severe COVID-192023

    • Author(s)
      Satoshi Okada
    • Organizer
      JSPSAAE
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 感染症と戦う宿主免疫 ~新型コロナウイルス感染症を中心に~2022

    • Author(s)
      岡田 賢
    • Organizer
      第33回日本小児科医会総会フォーラム
    • Related Report
      2022 Annual Research Report
    • Invited
  • [Presentation] 宿主免疫の異常による様々な病態2022

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本内分泌学会学術集会
    • Related Report
      2022 Annual Research Report
    • Invited
  • [Remarks] COVID-19に関連した小児突然死の背景にある希少疾患の診断に成功

    • URL

      https://www.hiroshima-u.ac.jp/news/76463

    • Related Report
      2023 Annual Research Report
  • [Remarks] 特定遺伝子の異常による新規の免疫異常症を発見

    • URL

      https://www.hiroshima-u.ac.jp/news/77296

    • Related Report
      2023 Annual Research Report
  • [Remarks] 本邦初のIL-17RC異常症による慢性皮膚粘膜カンジダ症例を同定

    • URL

      https://www.hiroshima-u.ac.jp/news/80874

    • Related Report
      2023 Annual Research Report
  • [Remarks] 小児COVID-19肺炎におけるⅠ型インターフェロン中和抗体の保有率を調査

    • URL

      https://www.hiroshima-u.ac.jp/news/80975

    • Related Report
      2023 Annual Research Report
  • [Remarks] COVID-19患者のⅠ型インターフェロン中和抗体保有率を国内で初調査

    • URL

      https://www.hiroshima-u.ac.jp/news/71810

    • Related Report
      2022 Annual Research Report
  • [Remarks] 先天性免疫異常症の新たな遺伝子診断法により診断効率を向上

    • URL

      https://www.hiroshima-u.ac.jp/news/76176

    • Related Report
      2022 Annual Research Report

URL: 

Published: 2022-04-19   Modified: 2024-12-25  

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