Okada Satoshi 岡田賢

… Alternative Names

OKADA Satoshi 岡田賢

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Researcher Number	80457241
Other IDs
Affiliation (Current)	2025: 広島大学, 医系科学研究科(医), 教授
Affiliation (based on the past Project Information) *help	2019 – 2024: 広島大学, 医系科学研究科(医), 教授 2018: 広島大学, 医系科学研究科(医), 講師 2017 – 2018: 広島大学, 医歯薬保健学研究科(医), 講師 2015 – 2016: 広島大学, 医歯薬保健学研究院(医), 講師 2015: 広島大学, 大学院医歯薬保健学研究院, 講師 … More 2014: 広島大学, 大学病院, 病院助教 2013 – 2014: 広島大学, 大学病院, 助教 2012: 広島大学, 病院(医), 病院助教 2009: Hiroshima University, 病院, 病院助教 2008: Hiroshima University, 病院, 医科診療医 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 49:Pathology, infection/immunology, and related fields Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Basic Section 58070:Lifelong developmental nursing-related
Keywords	Principal Investigator 原発性免疫不全症 / STAT1 / 慢性皮膚粘膜カンジダ症 / MSMD / CMC / RORγT / CMCD / 全エクソーム解析 / RORC / カンジダ … More / BCG / マウス / IL-17 / 疾患モデルマウス / 遺伝子異常 / 自己抗体 / 中和抗体 / RelA / インターフェロン過剰 / 易感染性 / I型インターフェロン / ウイルス / ロングリード / 次世代シーケンサー / 診断率向上 / ロングリードシーケンス / 診断困難例 / RNAシーケンス / 全ゲノム解析 / ロングリードNGS / 慢性皮膚粘膜カンジダ感染症 / 脱リン酸化酵素 / 多発性骨髄炎 / IL-17RC / 慢性皮膚粘膜カンジダ感染 / メンデル遺伝型マイコバクテリア易感染症 / トランスクリプトーム解析 / エクソーム解析 / オミックス解析 / NEMO / プロテオーム / トランスクリプトーム / 未診断 / targeted RNA sequence / 未診断症例 / プロテオーム解析 / ターゲットRNAシーケンス / マルチオミックス解析 / 末梢リンパ節 / マイコバクテリア / マイコバクテリア易感染症 / CMD / 機能獲得型変異 / 造血細胞移植 / IL17RA / STAT1機能獲得型変異 / 脱リン酸化障害 / 機能獲得性変異 / アラニンスキャニング / 治療 / ノックインマウス / 重症先天性好中球減少症 / ELA2 / 遺伝子 / 免疫学 … More Except Principal Investigator 体力低下 / 機能低下 / 復学支援 / 小児がん / 半量不全 / 優性阻害 / 免疫異常 / RELA / 細胞療法 / 新生児慢性肺疾患 / 21トリソミー / 間葉系幹細胞 / 慢性肺疾患 / 新生児 / ユビキチン修飾異常 / 原発性免疫不全症 / ユビキチン修飾 / 複合免疫不全症 / 機能獲得型変異 / Stat1 / 疾患モデルマウス / STAT1機能獲得型変異 / 慢性皮膚粘膜カンジダ症 / Stat1ノックインマウス / TALEN / 遺伝子修復 / 人工ヌクレアーゼ / 遺伝子編集 / iPS細胞 / 先天性好中球減少症 / 分枝鎖アミノトランスフェラーゼ / 分枝鎖αケト酸脱水素酵素複合体 / BCKDK / 分枝鎖αケト酸脱水素酵素 / ロイシン / 常染色体優性遺伝 / 分枝鎖α-ケト酸脱水素酵素キナーゼ(BCKDK) / 分枝鎖α-ケト酸脱水素酵素複合体 / メープルシロップ尿症 / 小児代謝・栄養学 Less

Elucidation of the molecular pathogenesis of autosomal dominant ReAl deficiency
- Principal Investigator
  
  津村弥来
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
The partnerships with schools by providing ongoing school visitation support by healthcare professionals for pediatric cancer patients with physical and functional declines.
- Principal Investigator
  
  祖父江育子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58070:Lifelong developmental nursing-related
- Research Institution
  Hiroshima University
Study of trisomy21 umbilical cord-derived mesenchymal stem cell therapy in bronchopulmonary dysplasia
- Principal Investigator
  
  早川誠一
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
Long-read sequencing analysis for difficult to diagnose cases of primary immunodeficiencyPrincipal Investigator
- Principal Investigator
  
  岡田賢
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
- Review Section
  
  Medium-sized Section 49:Pathology, infection/immunology, and related fields
- Research Institution
  Hiroshima University
Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to virusesPrincipal Investigator
- Principal Investigator
  
  岡田賢
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
Characterization of the mechanism of combined immunodeficiency due to ubiquitin modification abnormalities
- Principal Investigator
  
  Tsumura Miyuki
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogensPrincipal Investigator
- Principal Investigator
  
  OKADA SATOSHI
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiencyPrincipal Investigator
- Principal Investigator
  
  OKADA SATOSHI
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
- Review Section
  
  Medium-sized Section 49:Pathology, infection/immunology, and related fields
- Research Institution
  Hiroshima University
Molecular pathological analysis of infectious disease development using gain-of-function STAT1 knock-in mice.
- Principal Investigator
  
  Tsumura Miyuki
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Investigation of molecular mechanism and therapeutic target of Chronic Mucocutaneous CandidiasisPrincipal Investigator
- Principal Investigator
  
  OKADA SATOSHI
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Development of the treatment by investigating the mechanism of disseminated BCG in patients with RORgT deficiencyPrincipal Investigator
- Principal Investigator
  
  Okada Satoshi
- Project Period (FY)
  2016 – 2017
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Gene editing of iPS cells derived from patients with congenital phagocytic disorders
- Principal Investigator
  
  Kobayashi Masao
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Establishment of mouse model of chronic mucocutaneous candidiasis disease and use them to find therapeutic targetPrincipal Investigator
- Principal Investigator
  
  OKADA Satoshi
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Identification of new responsible gene for chronic mucocutaneous candidiasis disease. Analysis of molecular pathogenesis of STAT1 dysregulation.Principal Investigator
- Principal Investigator
  
  Okada Satoshi
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Familial hyperleucinemia with normal branched-chain α-ketoacid dehydrogenase activity suggesting novel mechanism of thiamin-responsive maple syrup urine disease
- Principal Investigator
  
  TAJIMA Go
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University
Analysis of Primary Immunodeficiency Syndromes using model mice.Principal Investigator
- Principal Investigator
  
  OKADA Satoshi
- Project Period (FY)
  2008 – 2009
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Hiroshima University

[Book] 好中球減少症へのアプローチ2022
- Author(s)
  溝口洋子, 岡田賢
- Total Pages
  7
- Publisher
  科学評論社
- Data Source
  KAKENHI-PROJECT-22KK0113
[Book] 原発性免疫不全症2022
- Author(s)
  岡田賢
- Total Pages
  5
- Publisher
  総合医学社
- Data Source
  KAKENHI-PROJECT-22KK0113
[Book] 臨床免疫・アレルギー科2017
- Author(s)
  岡田賢, 津村弥来, 小林正夫
- Total Pages
  7
- Publisher
  科学評論社
- Data Source
  KAKENHI-PROJECT-16K15528
[Book] 臨床免疫・アレルギー科2017
- Author(s)
  岡田賢, 津村弥来, 小林正夫
- Total Pages
  7
- Publisher
  科学評論社
- Data Source
  KAKENHI-PROJECT-16H05355
[Book] 原発性免疫不全症症候群　診療の手引き2017
- Author(s)
  岡田賢
- Total Pages
  10
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-16H05355
[Book] 原発性免疫不全症症候群　診療の手引き2017
- Author(s)
  岡田賢
- Total Pages
  10
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-16K15528
[Book] 日本臨床免疫症候群III2016
- Author(s)
  岡田賢
- Total Pages
  17
- Publisher
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-16H05355
[Book] 日本臨床免疫症候群III2016
- Author(s)
  岡田賢
- Total Pages
  17
- Publisher
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-16K15528
[Book] STAT1 gain-of-function mutation, 免疫不全症候群（第２版）III2016
- Author(s)
  岡田賢
- Publisher
  日本臨症社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] IL-17RA欠損症, 免疫不全症候群（第２版）III2016
- Author(s)
  浅野孝基, 岡田賢
- Publisher
  日本臨症社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] ACT1異常症, 免疫不全症候群（第２版）III2016
- Author(s)
  坂田園子, 岡田賢
- Publisher
  日本臨症社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] CARD9欠損症, 免疫不全症候群（第２版）III2016
- Author(s)
  早川誠一, 岡田賢
- Publisher
  日本臨症社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] IL-17F異常症, 免疫不全症候群（第２版）III2016
- Author(s)
  香川礼子, 岡田賢
- Publisher
  日本臨症社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] MSMD, 小児疾患診療のための病態生理2　改訂第5版2015
- Author(s)
  岡田賢, 小林正夫
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] 慢性皮膚粘膜カンジダ症, 小児疾患診療のための病態生理2　改訂第5版2015
- Author(s)
  岡田賢, 小林正夫
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] 好中球減少症および白血球接着異常症, 小児疾患診療のための病態生理2　改訂第5版2015
- Author(s)
  溝口洋子, 小林正夫, 岡田賢
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-25713039
[Book] Annual Review 血液20102010
- Author(s)
  岡田賢, 他
- Publisher
  中外医学社
- Data Source
  KAKENHI-PROJECT-20790731
[Book] 骨髄不全症候群とリボソームの異常, Annual Review血液20102010
- Author(s)
  岡田賢, 他
- Publisher
  中外医学社
- Data Source
  KAKENHI-PROJECT-20790731
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-23K09603, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K16924, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K17897, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15921, KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22K15939, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K06999, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K07867, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302, KAKENHI-PROJECT-19K10554
[Journal Article] Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis2022
- Author(s)
  Tomomasa Dan、Tanita Kay、Higashi Seishi、Tasaka Yuri、Shimamura Takashi、Sakurai Urara、Matsubara Tomoyo、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
- Journal Title
  
  Clinical Immunology
  
  Volume: 235 Pages: 108933-108933
- DOI
  10.1016/j.clim.2022.108933
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20J10721, KAKENHI-PROJECT-22K07887
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[Journal Article] Therapeutic options for CTLA-4 insufficiency2022
- Author(s)
  Egg David、Rump Ina Caroline、Mitsuiki Noriko、Rojas-Restrepo Jessica、Maccari Maria-Elena、 Schwab Charlotte、Gabrysch Annemarie、Warnatz Klaus、Goldacker Sigune、Patino Virginia、Wolff Daniel、Okada Satoshi、et al.
- Journal Title
  
  Journal of Allergy and Clinical Immunology
  
  Volume: 149 Issue: 2 Pages: 736-746
- DOI
  10.1016/j.jaci.2021.04.039
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K07841, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-20K16937, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24302
[Journal Article] 自己炎症性疾患関連血管炎2022
- Author(s)
  土居岳彦, 野間康輔, 岡田賢
- Journal Title
  
  日本免疫不全・自己炎症学会雑誌
  
  Volume: 1 Pages: 3-12
- NAID
  130008142176
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ2022
- Author(s)
  Tsumura Miyuki、Miki Mizuka、Mizoguchi Yoko、Hirata Osamu、Nishimura Shiho、Tamaura Moe、Kagawa Reiko、Hayakawa Seiichi、Kobayashi Masao、Okada Satoshi
- Journal Title
  
  Journal of Allergy and Clinical Immunology
  
  Volume: 149 Issue: 1 Pages: 252-261
- DOI
  10.1016/j.jaci.2021.05.018
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-21K15904, KAKENHI-PROJECT-22K15921, KAKENHI-PROJECT-20K22780
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-20K17460, KAKENHI-PROJECT-23K24302
[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
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
[Journal Article] 先天性免疫異常2021
- Author(s)
  玉浦萌, 岡田賢
- Journal Title
  
  臨床免疫・アレルギー科
  
  Volume: 75 Pages: 63-76
- NAID
  40022452477
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations2021
- Author(s)
  Tomioka K, Miyamoto T, Akutsu SN, Yanagihara H, Fujita K, Royba E, Tauchi H, Yamamoto T, Koh I, Hirata E, Kudo Y, Kobayashi M, Okada S, Matsuura S
- Journal Title
  
  Scientific Reports
  
  Volume: 11 Issue: 1 Pages: 1-13
- DOI
  10.1038/s41598-021-98673-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K22515, KAKENHI-PROJECT-19K16520, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19H04270, KAKENHI-PROJECT-21H02718, KAKENHI-PROJECT-20K21845
[Journal Article] Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings2021
- Author(s)
  Imanaka Yusuke、Taniguchi Maki、Doi Takehiko、Tsumura Miyuki、Nagaoka Rie、Shimomura Maiko、Asano Takaki、Kagawa Reiko、Mizoguchi Yoko、Karakawa Shuhei、Arihiro Koji、Imai Kohsuke、Morio Tomohiro、Casanova Jean-Laurent、Puel Anne、Ohara Osamu、Kamei Katsuhiko、Kobayashi Masao、Okada Satoshi
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: - Issue: 5 Pages: 975-986
- DOI
  10.1007/s10875-021-00988-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-21K15904, KAKENHI-PROJECT-21K15905
[Journal Article] Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency2021
- Author(s)
  Karakawa Shuhei、Shimomura Maiko、Sakata Sonoko、Matsubayashi Tadashi、Okada Satoshi
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 41 Issue: 3 Pages: 684-687
- DOI
  10.1007/s10875-020-00948-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation2021
- Author(s)
  Beck David B.、Basar Mohammed A.、Asmar Anthony J.、Thompson Joyce J.、Oda Hirotsugu、Uehara Daniela T.、Saida Ken、Pajusalu Sander、Talvik Inga、D’Souza Precilla、Bodurtha Joann、Mu Weiyi、Baranano Kristin W.、Miyake Noriko、Wang Raymond、Kempers Marlies、Tamada Tomoko、Nishimura Yutaka、Okada Satoshi、et al.
- Journal Title
  
  Science Advances
  
  Volume: 7 Issue: 4
- DOI
  10.1126/sciadv.abe2116
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] 好中球減少症（自己免疫性好中球減少症、重症先天性好中球減少症）2021
- Author(s)
  郷田聡, 川口浩史, 岡田賢
- Journal Title
  
  小児内科
  
  Volume: 53 Pages: 1094-1098
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT32021
- Author(s)
  Tanita Kay、Sakura Fumiaki、Nambu Ryusuke、Tsumura Miyuki、Imanaka Yusuke、Ohnishi Hidenori、Kato Zenichiro、Pan Jie、Hoshino Akihiro、Suzuki Koji、Yasutomi Motoko、Umetsu Shuichiro、Okada Chizuru、Takagi Masatoshi、Imai Kohsuke、Ohara Osamu、Muise Alexo M.、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: - Issue: 4 Pages: 780-790
- DOI
  10.1007/s10875-021-00975-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-20J10721
[Journal Article] Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association2021
- Author(s)
  Martinot Martin、Korganow Anne Sophie、Wald Mathieu、Second Julie、Birckel Elodie、Mahe Antoine、Souply Laurent、Mohseni-Zadeh Mahsa、Droy Laure、Tarabeux Julien、Okada Satoshi、 Migaud Melanie、Puel Anne、Guffroy Aurelien
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 12 Pages: 760019-760019
- DOI
  10.3389/fimmu.2021.760019
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency2021
- Author(s)
  Le Voyer Tom、Sakata Sonoko、Tsumura Miyuki、Khan Taushif、Esteve-Sole Ana、Al-Saud Bandar K.、 Gungor Hatice Eke、Taur Prasad、Jeanne-Julien Valentine、Christiansen Mette、Kohler Lisa- Maria、ElGhazali Gehad Eltayeb、Rosain Jeremie、Nishimura Shiho、Sakura Fumiaki、...、Okada Satoshi、Bustamante Jacinta
- Journal Title
  
  The Journal of Immunology
  
  Volume: 207 Issue: 1 Pages: 133-152
- DOI
  10.4049/jimmunol.2001451
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158
[Journal Article] 維持療法中にヒトパルボウイルスB19 感染による急激な貧血を伴う血球減少を呈した混合形質性急性白血病の一例2021
- Author(s)
  芦原康介，松村梨紗，望月慎史，森下祐介，野間康輔，川口浩史，小林正夫，岡田賢
- Journal Title
  
  日本小児血液・がん学会雑誌
  
  Volume: 58 Pages: 442-445
- NAID
  130008158330
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS2021
- Author(s)
  Yamashita Motoi、Kuehn Hye Sun、Okuyama Kazuki、Okada Satoshi、Inoue Yuzaburo、Takagi Masatoshi、Kanegane Hirokazu、Takeuchi Masahiro、Shimojo Naoki、Tsumura Miyuki、Padhi Aditya K.、Zhang Kam Y. J.、Boisson Bertrand、Casanova Jean-Laurent、Ohara Osamu、Rosenzweig Sergio D.、Taniuchi Ichiro、Morio Tomohiro
- Journal Title
  
  Nature Immunology
  
  Volume: 22 Issue: 7 Pages: 893-903
- DOI
  10.1038/s41590-021-00951-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-19H05747, KAKENHI-PROJECT-19H03614, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-21H02879, KAKENHI-PROJECT-20K07459, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K16884
[Journal Article] Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency2021
- Author(s)
  Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, M.H, K.A, M.T, H.S, K.N, K.S, H.Y, I.K, N.R, T.M, Y.Y, T.S, O.T, O.T, K.T, S.I, F.Y, W.N, I.Y, K.K, O.S, T.T, N.K, M.S, Y.K, Kaisho T
- Journal Title
  
  Nature Communications
  
  Volume: 12 Issue: 1 Pages: 0-0
- DOI
  10.1038/s41467-021-27085-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07062, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-ORGANIZER-18H05497, KAKENHI-PLANNED-18H05500, KAKENHI-PROJECT-18H04022, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-20K17405
[Journal Article] Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths2021
- Author(s)
  Paul Bastard、Adrian Gervais、Tom Le Voyer、Jeremie Rosain、Quentin Philippot、Jeremy Manry、 Eleftherios Michailidis、Hans-Heinrich Hoffmann、Shohei Eto、Marina Garcia-Prat 、Lucy Bizien、 Alba Parra-Martinez、Rui Yang、Liis Haljasmagi、Melanie Migaud、...、Satoshi Okada、et al.
- Journal Title
  
  Science Immunology
  
  Volume: 6 Issue: 62 Pages: 1-26
- DOI
  10.1126/sciimmunol.abl4340
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19K10554, KAKENHI-PROJECT-20K08158
[Journal Article] 先天性免疫異常2021
- Author(s)
  玉浦萌, 岡田賢
- Journal Title
  
  臨床免疫・アレルギー科
  
  Volume: 75 Pages: 63-76
- NAID
  40022452477
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Inborn errors of STAT1 immunity2021
- Author(s)
  Mizoguchi Yoko、Okada Satoshi
- Journal Title
  
  Current Opinion in Immunology
  
  Volume: 72 Pages: 59-64
- DOI
  10.1016/j.coi.2021.02.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-21K15905
[Journal Article] Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants2021
- Author(s)
  Sevim Bayrak Cigdem、Stein David、Jain Aayushee、Chaudhary Kumardeep、Nadkarni Girish N.、Van Vleck Tielman T.、Puel Anne、Boisson-Dupuis Stephanie、Okada Satoshi、Stenson Peter D.、Cooper David N.、Schlessinger Avner、Itan Yuval
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 108 Issue: 12 Pages: 2301-2318
- DOI
  10.1016/j.ajhg.2021.10.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype2021
- Author(s)
  Melinda Erdos、Miyuki Tsumura、Judit Kallai、Arpad Lanyi、Zoltan Nyul、Gyorgy Balazs、Satoshi Okada、Laszlo Marodi
- Journal Title
  
  Clinical and Experimental Immunology
  
  Volume: 205 Issue: 3 Pages: 354-362
- DOI
  10.1111/cei.13625
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158
[Journal Article] A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency2021
- Author(s)
  Qin Tao、Jia Yanjun、Liu Yuhang、Dai Rongxin、Zhou Lina、Okada Satoshi、Tsumura Miyuki、Ohnishi Hidenori、Kato Zenichiro、Kanegane Hirokazu、Sun Xiulian、Zhao Xiaodong
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 11 Pages: 517544-517544
- DOI
  10.3389/fimmu.2020.517544
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08249, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228
[Journal Article] The expansion of human T-bet high CD21 low B cells is T cell dependent2021
- Author(s)
  Keller Baerbel、Strohmeier Valentina、Harder Ina、Unger Susanne、Payne Kathryn J.、Andrieux Geoffroy、Boerries Melanie、Felixberger Peter Tobias、Landry Jonathan J. M.、Nieters Alexandra、Rensing-Ehl Anne、Salzer Ulrich、Frede Natalie、Usadel Susanne、Elling Roland、 Speckmann Carsten、...、Okada Satoshi、et al.
- Journal Title
  
  Science Immunology
  
  Volume: 6 Issue: 64
- DOI
  10.1126/sciimmunol.abh0891
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Pneumococcal serotype-specific opsonophagocytic activity in interleukin-1 receptor-associated kinase 4-deficient patients.2021
- Author(s)
  Uehara T, Morino S, Oishi K, Nakamura Y, Togashi N, Imaizumi M, Nishimura S, Okada S, Yara A, Fukushima H, Imagawa K, Takada H.
- Journal Title
  
  Pediatr Infect Dis J
  
  Volume: 40 Issue: 5 Pages: 460-463
- DOI
  10.1097/inf.0000000000003060
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] Possible involvement of regulatory T cell abnormalities and variational usage of TCR repertoire in children with autoimmune neutropenia2020
- Author(s)
  Goda S.、Hayakawa S.、Karakawa S.、Okada S.、Kawaguchi H.、Kobayashi M.
- Journal Title
  
  Clinical & Experimental Immunology
  
  Volume: 204 Issue: 1 Pages: 1-13
- DOI
  10.1111/cei.13559
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] DBR1欠損2020
- Author(s)
  坂田園子, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 351-353
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation2020
- Author(s)
  Nishimura Shiho、Kobayashi Yoshiyuki、Ohnishi Hidenori、Moriya Kunihiko、Tsumura Miyuki、Sakata Sonoko、Mizoguchi Yoko、Takada Hidetoshi、Kato Zenichiro、Sancho-Shimizu Vanessa、Picard Capucine、Irani Sarosh R.、Ohara Osamu、Casanova Jean-Laurent、Puel Anne、Ishikawa Nobutsune、Okada Satoshi、Kobayashi Masao
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 41 Issue: 1 Pages: 125-135
- DOI
  10.1007/s10875-020-00885-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18K15716, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-21K07791
[Journal Article] RNA polymerase III欠損症2020
- Author(s)
  今中雄介, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 345-347
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] ゲノム編集と治療　ゲノム編集技術を活用した重症先天性好中球減少症の治療開発2020
- Author(s)
  今中雄介, 岡田賢
- Journal Title
  
  医学のあゆみ
  
  Volume: 273 Pages: 835-840
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] SPPL2a欠損症2020
- Author(s)
  冨岡啓太, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 313-315
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] P1104A TYK2 homozygosity2020
- Author(s)
  早川誠一, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 316-318
- NAID
  40022450587
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 内因性あるいは自然免疫の異常　概論およびトピックス2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 303-312
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] CD16欠損症2020
- Author(s)
  江藤昌平, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 363-365
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.2020
- Author(s)
  Nemoto K, Kawanami T, Hoshina T, Ishimura M, Yamasaki K, Okada S, Kanegane H, Yatera K, Kusuhara K.
- Journal Title
  
  Front Immunol
  
  Volume: 11 Pages: 557521-557521
- DOI
  10.3389/fimmu.2020.557521
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08173, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] CIB1欠損症2020
- Author(s)
  溝口洋子, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 325-327
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] RORγT欠損症2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 319-321
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusion-dependent pyruvate kinase deficiency anemia2020
- Author(s)
  Shimomura Maiko、Doi Takehiko、Nishimura Shiho、Imanaka Yusuke、Karakawa Shuhei、Okada Satoshi、Kawaguchi Hiroshi、Kobayashi Masao
- Journal Title
  
  Hematology Reports
  
  Volume: 12 Issue: 1 Pages: 8305-8305
- DOI
  10.4081/hr.2020.8305
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] IRF9欠損症2020
- Author(s)
  加藤豊, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 328-330
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation2020
- Author(s)
  Moriya K, Suzuki T, Uchida N, Nakano T, Katayama S, Irie M, Rikiishi T, Niizuma H, Okada S, Imai K, Sasahara Y, Kure S
- Journal Title
  
  Int J Hematol
  
  Volume: - Issue: 2 Pages: 258-262
- DOI
  10.1007/s12185-020-02860-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19K23819, KAKENHI-PROJECT-18KK0228
[Journal Article] IFNAR2欠損症2020
- Author(s)
  郷田聡, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 335-338
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] JAK1欠損症2020
- Author(s)
  西村志帆, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 322-324
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils2020
- Author(s)
  Nakamura-Utsunomiya Akari、Tsumura Miyuki、Okada Satoshi、Kawaguchi Hiroshi、Kobayashi Masao
- Journal Title
  
  PLOS ONE
  
  Volume: 15 Issue: 4 Pages: e0230665-e0230665
- DOI
  10.1371/journal.pone.0230665
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-17K19600, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations2020
- Author(s)
  Sakata Sonoko、Tsumura Miyuki、Matsubayashi Tadashi、Karakawa Shuhei、Kimura Shunsuke、Tamaura Moe、Okano Tsubasa、Naruto Takuya、Mizoguchi Yoko、Kagawa Reiko、Nishimura Shiho、Imai Kohsuke、Le Voyer Tom、Casanova Jean-Laurent、Bustamante Jacinta、Morio Tomohiro、Ohara Osamu、Kobayashi Masao、Okada Satoshi
- Journal Title
  
  International Immunology
  
  Volume: 32 Issue: 10 Pages: 663-671
- DOI
  10.1093/intimm/dxaa043
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-20K22780, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
[Journal Article] Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus2020
- Author(s)
  Matsumura Risa、Mochizuki Shinji、Maruyama Natsuki、Morishita Yusuke、Kawaguchi Hiroshi、Okada Satoshi、Tsumura Miyuki、Kaji Shunsaku、Shimizu Junya、Shimada Akira、Kobayashi Masao
- Journal Title
  
  International Journal of Hematology
  
  Volume: 113 Issue: 2 Pages: 302-307
- DOI
  10.1007/s12185-020-03004-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18KK0228
[Journal Article] IFNAR2欠損症2020
- Author(s)
  郷田聡, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 335-338
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 研究の進歩　責任遺伝子探索2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 21-26
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] CIB1欠損症2020
- Author(s)
  溝口洋子, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 325-327
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] IRF3欠損症2020
- Author(s)
  佐倉文祥, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 348-350
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Acute liver failure due to NBAS deficiency2020
- Author(s)
  藤川皓基, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 363-365
- NAID
  40022450096
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy2020
- Author(s)
  Okada Satoshi、Asano Takaki、Moriya Kunihiko、Boisson-Dupuis Stephanie、Kobayashi Masao、Casanova Jean-Laurent、Puel Anne
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 40 Issue: 8 Pages: 1065-1081
- DOI
  10.1007/s10875-020-00847-x
- NAID
  120007168960
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18KK0228
[Journal Article] Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation2020
- Author(s)
  Acker Karen P.、Borlack Rachel、Iuga Alina、Remotti Helen E.、Soderquist Craig R.、Okada Satoshi、Tsumura Miyuki、Casanova Jean-Laurent、Picoraro Joseph、Puel Anne、Kinberg Sivan、Demirdag Yesim
- Journal Title
  
  Journal of Pediatric Gastroenterology & Nutrition
  
  Volume: 71 Issue: 4
- DOI
  10.1097/mpg.0000000000002854
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] CD16欠損症2020
- Author(s)
  江藤昌平, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 339-341
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IRF3欠損症2020
- Author(s)
  佐倉文祥, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 348-350
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IL-17RC欠損症2020
- Author(s)
  齋藤聡志, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 354-356
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Acute liver failure due to NBAS deficiency2020
- Author(s)
  藤川皓基, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 363-365
- NAID
  40022450096
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] DBR1欠損2020
- Author(s)
  坂田園子, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 351-353
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] 内因性あるいは自然免疫の異常　概論およびトピックス2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 303-312
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] RNA polymerase III欠損症2020
- Author(s)
  今中雄介, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 339-341
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] 研究の進歩　責任遺伝子探索2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 21-26
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] T+/low B+NK+の表現型を呈した非典型的X連鎖性重症複合免疫不全症2020
- Author(s)
  江口勇太，土居岳彦，野間康輔，浅野孝基，岡田賢，小林正夫
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 123 Pages: 1009-1014
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IFNAR1欠損症2020
- Author(s)
  郷田聡, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 331-334
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity2020
- Author(s)
  Okano Tsubasa、Imai Kohsuke、Naruto Takuya、Okada Satoshi、Yamashita Motoi、Yeh Tzu-wen、Ono Shintaro、Tanaka Keisuke、Okamoto Keisuke、Tanita Kay、Matsumoto Kazuaki、Toyofuku Etsushi、Kumaki-Matsumoto Eri、Okamura Miko、Ueno Hiroo、Ogawa Seishi、Ohara Osamu、Takagi Masatoshi、Kanegane Hirokazu、Morio Tomohiro
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 40 Issue: 5 Pages: 729-740
- DOI
  10.1007/s10875-020-00798-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
[Journal Article] RORγT欠損症2020
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 319-321
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation2020
- Author(s)
  Matsuda, T. Kambe, N. Hosokawa, J. Ohara, O. Saito, M. K. Nishikomori, R.
- Journal Title
  
  Annals of the Rheumatic Diseases
  
  Volume: 79 Issue: 11 Pages: 1492-1499
- DOI
  10.1136/annrheumdis-2020-217320
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08784, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K08265, KAKENHI-PROJECT-18KK0228
[Journal Article] P1104A TYK2 homozygosity2020
- Author(s)
  早川誠一, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 316-318
- NAID
  40022450587
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] 非結核性抗酸菌ならびに真菌に易感染性を示す免疫不全症2020
- Author(s)
  岡田賢
- Journal Title
  
  小児科診療
  
  Volume: 83 Pages: 335-340
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IFNAR1欠損症2020
- Author(s)
  郷田聡, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 331-334
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 急性壊死性脳症2020
- Author(s)
  野間康輔, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 366-368
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Clinical Significance of Serum Soluble TNF Receptor I/II Ratio for the Differential Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome From Other Autoinflammatory Diseases2020
- Author(s)
  Yasumura Junko、Shimizu Masaki、Toma Tomoko、Yashiro Masato、Yachie Akihiro、Okada Satoshi
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 11 Pages: 576152-576152
- DOI
  10.3389/fimmu.2020.576152
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
[Journal Article] リンパ増殖性疾患と原発性免疫不全2020
- Author(s)
  土居岳彦, 岡田賢
- Journal Title
  
  臨床血液
  
  Volume: 61 Pages: 1365-1372
- NAID
  130007937083
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 急性壊死性脳症2020
- Author(s)
  野間康輔, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 366-368
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] ゲノム編集と治療　ゲノム編集技術を活用した重症先天性好中球減少症の治療開発2020
- Author(s)
  今中雄介, 岡田賢
- Journal Title
  
  医学のあゆみ
  
  Volume: 273 Pages: 835-840
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] SPPL2a欠損症2020
- Author(s)
  冨岡啓太, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 313-315
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] IL-17RC欠損症2020
- Author(s)
  齋藤聡志, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 354-356
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] IRF9欠損症2020
- Author(s)
  加藤豊, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 328-330
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] JAK1欠損症2020
- Author(s)
  西村志帆, 岡田賢
- Journal Title
  
  日本臨床 8巻増刊7 原発性免疫不全症候群
  
  Volume: 8 Pages: 322-324
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans2020
- Author(s)
  Yeh Tzu-Wen、Okano Tsubasa、Naruto Takuya、Yamashita Motoi、Okamura Miko、Tanita Kay、Du Likun、Pan-Hammarstrom Qiang、Mitsuiki Noriko、Okada Satoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
- Journal Title
  
  Journal of Allergy and Clinical Immunology
  
  Volume: 146 Issue: 5 Pages: 1109-1120
- DOI
  10.1016/j.jaci.2020.03.025
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
[Journal Article] T+/low B+NK+の表現型を呈した非典型的X連鎖性重症複合免疫不全症2020
- Author(s)
  江口勇太，土居岳彦，野間康輔，浅野孝基，岡田賢，小林正夫
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 123 Pages: 1009-1014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] リンパ増殖性疾患と原発性免疫不全2020
- Author(s)
  土居岳彦, 岡田賢
- Journal Title
  
  臨床血液
  
  Volume: 61 Pages: 1365-1372
- NAID
  130007937083
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months2020
- Author(s)
  Nakamura-Utsunomiya Akari、Nakamae Toshio、Kagawa Reiko、Karakawa Shuhei、Sakata Sonoko、Sakura Fumiaki、Tani Chihiro、Matsubara Yoshiko、Ishino Takashi、Tajima Go、Okada Satoshi
- Journal Title
  
  International Journal of Molecular Sciences
  
  Volume: 21 Issue: 3 Pages: 989-989
- DOI
  10.3390/ijms21030989
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
[Journal Article] 真菌感染症2019
- Author(s)
  玉浦萌, 岡田賢
- Journal Title
  
  小児内科
  
  Volume: 51 Pages: 1147-1150
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] 成人例も含む国内本態性高Na血症12例での脳弓下器官への特異的抗体解析2019
- Author(s)
  宇都宮朱里, 檜山武史, 岡田賢, 小林正夫
- Journal Title
  
  日本内分泌学会雑誌
  
  Volume: 95 Pages: 34-37
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 発熱、貧血、歩行障害を主訴に小児壊血病を発症した自閉スペクトラム症2019
- Author(s)
  古森遼太, 土居岳彦, 野間康輔, 岡田賢, 小林正夫
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 123 Pages: 1283-1289
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] ～これまでの流れから最近の話題まで～2019
- Author(s)
  浅野孝基、岡田賢
- Journal Title
  
  The Japanese Journal of Pediatric Hematology / Oncology
  
  Volume: 56 Issue: 5 Pages: 379-387
- DOI
  10.11412/jspho.56.379
- NAID
  130007795815
- ISSN
  2187-011X, 2189-5384
- Language
  Japanese
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
[Journal Article] 小児、AYA世代の悪性脳腫瘍サバイバーにおける内分泌学的問題点 GH補充療法を中心に2019
- Author(s)
  山崎文之, 木下康之, 碓井智, 岡田賢, 高野元気, 米澤潮, 田口慧, 宮河真一郎, 富永篤, 杉山一彦, 栗栖薫
- Journal Title
  
  日本内分泌学会雑誌
  
  Volume: 95 Pages: 36-38
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] 増刊号検査項目と異常値からみた-緊急･重要疾患レッドページ 10章　膠原病･免疫疾患免疫不全症2019
- Author(s)
  浅野孝基、岡田賢
- Journal Title
  
  臨床検査
  
  Volume: 63 Issue: 4 Pages: 536-537
- DOI
  10.11477/mf.1542201999
- ISSN
  0485-1420, 1882-1367
- Year and Date
  2019-04-15
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
[Journal Article] 発熱、貧血、歩行障害を主訴に小児壊血病を発症した自閉スペクトラム症2019
- Author(s)
  古森遼太, 土居岳彦, 野間康輔, 岡田賢, 小林正夫
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 123 Pages: 1283-1289
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] 小児、AYA世代の悪性脳腫瘍サバイバーにおける内分泌学的問題点 GH補充療法を中心に2019
- Author(s)
  山崎文之, 木下康之, 碓井智, 岡田賢, 高野元気, 米澤潮, 田口慧, 宮河真一郎, 富永篤, 杉山一彦, 栗栖薫
- Journal Title
  
  日本内分泌学会雑誌
  
  Volume: 95 Pages: 36-38
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Dr. Maeshima, et al, reply2019
- Author(s)
  MAESHIMA KEISUKE、OKADA SATOSHI、SHIBATA HIROTAKA
- Journal Title
  
  The Journal of Rheumatology
  
  Volume: 46 Issue: 6 Pages: 655-656
- DOI
  10.3899/jrheum.181455
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
[Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019
- Author(s)
  Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 6 Pages: 1233-1240
- DOI
  10.1016/j.ajhg.2019.04.014
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K19281, KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223
[Journal Article] Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice2019
- Author(s)
  Tamaura Moe、Satoh-Takayama Naoko、Tsumura Miyuki、Sasaki Takaharu、Goda Satoshi、Kageyama Tomoko、Hayakawa Seiichi、Kimura Shunsuke、Asano Takaki、Nakayama Manabu、Koseki Haruhiko、Ohara Osamu、Okada Satoshi、Ohno Hiroshi、Kobayashi Masao
- Journal Title
  
  International Immunology
  
  Volume: － Issue: 4 Pages: 259-272
- DOI
  10.1093/intimm/dxz079
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-20K08158, KAKENHI-PLANNED-19H05745, KAKENHI-PROJECT-16H02622, KAKENHI-PROJECT-18K07189, KAKENHI-PROJECT-18K07847
[Journal Article] 真菌感染症2019
- Author(s)
  玉浦萌, 岡田賢
- Journal Title
  
  小児内科
  
  Volume: 51 Pages: 1147-1150
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency2019
- Author(s)
  Kumaki Eri、Tanaka Keisuke、Imai Kohsuke、Aoki-Nogami Yuki、Ishiguro Akira、Okada Satoshi、Kanegane Hirokazu、Ishikawa Fumihiko、Morio Tomohiro
- Journal Title
  
  International Journal of Hematology
  
  Volume: 109 Issue: 4 Pages: 382-389
- DOI
  10.1007/s12185-019-02614-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10099
[Journal Article] 成人例も含む国内本態性高Na血症12例での脳弓下器官への特異的抗体解析2019
- Author(s)
  宇都宮朱里, 檜山武史, 岡田賢, 小林正夫
- Journal Title
  
  日本内分泌学会雑誌
  
  Volume: 95 Pages: 34-37
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma2019
- Author(s)
  Henrickson Sarah E.、Dolan Joseph G.、Forbes Lisa R.、Vargas-Hernandez Alexander、Nishimura Shiho、Okada Satoshi、Kersun Leslie S.、Brodeur Garrett M.、Heimall Jennifer R.
- Journal Title
  
  Frontiers in Pediatrics
  
  Volume: 7 Pages: 160-160
- DOI
  10.3389/fped.2019.00160
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03620
[Journal Article] メンデル遺伝型マイコバクテリア易感染症2018
- Author(s)
  浅野孝基, 岡田賢
- Journal Title
  
  小児疾患の診断治療基準　改訂5版
  
  Volume: 改訂5版 Pages: 264-265
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] 慢性皮膚粘膜カンジダ症2018
- Author(s)
  岡田賢
- Journal Title
  
  小児疾患の診断治療基準
  
  Volume: 改訂5版 Pages: 266-267
- NAID
  130005696887
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases2018
- Author(s)
  Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.
- Journal Title
  
  Allergol. Int.
  
  Volume: 67 Issue: 1 Pages: 43-54
- DOI
  10.1016/j.alit.2017.06.003
- NAID
  130006322088
- ISSN
  1323-8930, 1440-1592
- Language
  English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642, KAKENHI-PROJECT-15K09655, KAKENHI-PROJECT-16K15528
[Journal Article] Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations2018
- Author(s)
  Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, et al.
- Journal Title
  
  J Allergy Clin Immunol.
  
  Volume: 141 Issue: 2 Pages: 704-717
- DOI
  10.1016/j.jaci.2017.03.049
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K15528
[Journal Article] 慢性皮膚粘膜カンジダ症2018
- Author(s)
  岡田賢
- Journal Title
  
  小児疾患の診断治療基準
  
  Volume: 改訂5版 Pages: 266-267
- NAID
  130005696887
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome2018
- Author(s)
  Asano Takaki、Okada Satoshi、Tsumura Miyuki、Yeh Tzu-Wen、Mitsui-Sekinaka Kanako、Tsujita Yuki、Ichinose Youjiro、Shimada Akira、Hashimoto Kunio、Wada Taizo、Imai Kohsuke、Ohara Osamu、Morio Tomohiro、Nonoyama Shigeaki、Kobayashi Masao
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 9 Pages: 568-568
- DOI
  10.3389/fimmu.2018.00568
- NAID
  120006473827
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04233, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-16H05355
[Journal Article] 伴性遺伝性低ガンマグロブリン血症を伴うGH単独欠損症2018
- Author(s)
  岡田賢
- Journal Title
  
  内分泌症候群（第3版）Iーその他の内分泌疾患を含めて－
  
  Volume: （第3版）I Pages: 73-76
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] コルチコステロイド減量により奇異性反応を繰り返した重症結核性髄膜炎・脳結核腫2018
- Author(s)
  野間康輔, 土居岳彦, 古森遼太, 江口勇太, 小野大地, 松村梨紗, 望月慎史, 岡田賢, 小林正夫
- Journal Title
  
  小児科学会雑誌
  
  Volume: 122(7) Pages: 1818-1825
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] メンデル遺伝型マイコバクテリア易感染症2018
- Author(s)
  浅野孝基, 岡田賢
- Journal Title
  
  小児疾患の診断治療基準
  
  Volume: 改訂5版 Pages: 264-265
- Data Source
  KAKENHI-PROJECT-18KK0228
[Journal Article] Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection2018
- Author(s)
  Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, et al.
- Journal Title
  
  Cell
  
  Volume: 172 Issue: 5 Pages: 952-965.e18
- DOI
  10.1016/j.cell.2018.02.019
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers2018
- Author(s)
  Egg David、Schwab Charlotte、Gabrysch Annemarie、Arkwright Peter D.、Cheesman Edmund、Giulino-Roth Lisa、Neth Olaf、Snapper Scott、Okada Satoshi、et al.
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 9 Pages: 2012-2012
- DOI
  10.3389/fimmu.2018.02012
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] Gain-of-function IKBKB mutation causes human combined immune deficiency2018
- Author(s)
  Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G,et al.
- Journal Title
  
  J Exp Med
  
  Volume: 215 Issue: 11 Pages: 2715-2724
- DOI
  10.1084/jem.20180639
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228, KAKENHI-PLANNED-15H05909, KAKENHI-PLANNED-15H05912, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-16H05355
[Journal Article] Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency2018
- Author(s)
  Boisson Bertrand、Honda Yoshitaka、Ajiro Masahiko、Bustamante Jacinta、Bendavid Matthieu、Gennery Andrew R.、Kawasaki Yuri、Ichishima Jose、Osawa Mitsujiro、Nihira Hiroshi、Shiba Takeshi、Tanaka Takayuki、Chrabieh Maya、Bigio Benedetta、Hur Hong、Itan Yuval、Liang Yupu、Okada Satoshi、et al.
- Journal Title
  
  Journal of Clinical Investigation
  
  Volume: 129 Issue: 2 Pages: 583-597
- DOI
  10.1172/jci124011
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-15H05721, KAKENHI-PROJECT-16H05352, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-17J08574, KAKENHI-PROJECT-19K07367
[Journal Article] Mendelian susceptibility to mycobacterial disease: 2014-2018 update2018
- Author(s)
  Rosain Jeremie、Kong Xiao-Fei、Martinez-Barricarte Ruben、Oleaga-Quintas Carmen、Ramirez-Alejo Noe、Markle Janet、Okada Satoshi、et al.
- Journal Title
  
  Immunology and Cell Biology
  
  Volume: epub Issue: 4 Pages: 360-367
- DOI
  10.1111/imcb.12210
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-16H05355
[Journal Article] 慢性皮膚粘膜カンジダ症2017
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床免疫学会会誌
  
  Volume: 40 Pages: 109-117
- NAID
  130005696887
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial2017
- Author(s)
  Kitaoka Taichi、Tajima Toshihiro、Nagasaki Keisuke、Kikuchi Toru、Yamamoto Katsusuke、Michigami Toshimi、Okada Satoshi、Fujiwara Ikuma、Kokaji Masayuki、Mochizuki Hiroshi、Ogata Tsutomu、Tatebayashi Koji、Watanabe Atsushi、Yatsuga Shuichi、Kubota Takuo、Ozono Keiichi
- Journal Title
  
  Clin Endocrinol.
  
  Volume: 87 Issue: 1 Pages: 10-19
- DOI
  10.1111/cen.13343
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay2017
- Author(s)
  Onodera Rie、Kurita Emi、Taniguchi Kikuyo、Karakawa Shuhei、Okada Satoshi、Kihara Hirotaka、Fujii Teruhisa、Kobayashi Masao
- Journal Title
  
  Transfusion
  
  Volume: 57 Issue: 11 Pages: 2586-2594
- DOI
  10.1111/trf.14291
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Molecular Mechanism and Structural Basis of Gain of Function of STAT1 Caused by Pathogenic R274Q Mutation2017
- Author(s)
  Fujiki R, Hijikata A, Shirai T, Okada S, Kobayashi M, Ohara O
- Journal Title
  
  J Biol Chem.
  
  Volume: 292 Issue: 15 Pages: 6240-6254
- DOI
  10.1074/jbc.m116.753848
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K00411, KAKENHI-PROJECT-16K15528, KAKENHI-PROJECT-15K21487
[Journal Article] Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report2017
- Author(s)
  Sakata Sonoko、Okada Satoshi、Aoyama Kohei、Hara Keiichi、Tani Chihiro、Kagawa Reiko、Utsunomiya-Nakamura Akari、Miyagawa Shinichiro、Ogata Tsutomu、Mizuno Haruo、Kobayashi Masao
- Journal Title
  
  Frontiers in Genetics
  
  Volume: 8 Pages: 1-6
- DOI
  10.3389/fgene.2017.00210
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09627, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] A Case with Spondyloenchondrodysplasia Treated with Growth Hormone2017
- Author(s)
  Utsumi Takanori、Okada Satoshi、Izawa Kazushi、Honda Yoshitaka、Nishimura Gen、Nishikomori Ryuta、Okano Rika、Kobayashi Masao
- Journal Title
  
  Front Endocrinol.
  
  Volume: 8 Pages: 157-157
- DOI
  10.3389/fendo.2017.00157
- NAID
  120006331972
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity2017
- Author(s)
  Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasaio H, Fukaoo T, Fujikip R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagis M, Hata I, Shigematsu Y, Kobayashi M
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 122 Issue: 3 Pages: 67-75
- DOI
  10.1016/j.ymgme.2017.07.011
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Significant augmentation of regulatory T cell numbers occurs during the early neonatal period2017
- Author(s)
  Hayakawa S.、Ohno N.、Okada S.、Kobayashi M.
- Journal Title
  
  Clin Exp Immunol.
  
  Volume: 190 Issue: 2 Pages: 268-279
- DOI
  10.1111/cei.13008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan2017
- Author(s)
  Nagasaki Keisuke、Kubota Takuo、Kobayashi Hironori、Sawada Hirotake、Numakura Chikahiko、Harada Shohei、Takasawa Kei、Minamitani Kanshi、Ishii Tomohiro、Okada Satoshi、Kamasaki Hotaka、Sugihara Shigetaka、Adachi Masanori、Tajima Toshihiro
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 26 Issue: 4 Pages: 207-213
- DOI
  10.1297/cpe.26.207
- NAID
  130006105766
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody2017
- Author(s)
  Nakamura-Utsunomiya A, Hiyama TY, Okada S, Noda M, Kobayashi M.
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 26 Issue: 4 Pages: 197-205
- DOI
  10.1297/cpe.26.197
- NAID
  130006105714
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293043, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis2017
- Author(s)
  Eslami Narges、Tavakol Marzieh、Mesdaghi Mehrnaz、Gharegozlou Mohammad、Casanova Jean-Laurent、Puel Anne、Okada Satoshi、Arshi Saba、Bemanian Mohammad Hassan、Fallahpour Morteza、Molatefi Rasool、Seif Farhad、Zoghi Samaneh、Rezaei Nima、Nabavi Mohammad
- Journal Title
  
  Acta Microbiol Immunol Hung.
  
  Volume: 64 Issue: 2 Pages: 191-201
- DOI
  10.1556/030.64.2017.014
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] 慢性皮膚粘膜カンジダ症2017
- Author(s)
  岡田賢
- Journal Title
  
  日本臨床免疫学会会誌
  
  Volume: 40 Pages: 109-117
- NAID
  130005696887
- Data Source
  KAKENHI-PROJECT-16K15528
[Journal Article] Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.2017
- Author(s)
  Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H.
- Journal Title
  
  J Allergy Clin Immunol.
  
  Volume: - Issue: 1 Pages: 390-400
- DOI
  10.1016/j.jaci.2016.09.029
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K15386, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K10112, KAKENHI-PLANNED-15H05912, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.2016
- Author(s)
  Okada S, Puel A, Casanova JL, Kobayashi M
- Journal Title
  
  Clin Transl Immunology.
  
  Volume: 5
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Journal Article] Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.2016
- Author(s)
  Levy R, Okada S, Beziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, et al.
- Journal Title
  
  Proc Natl Acad Sci USA
  
  Volume: 113 Issue: 51
- DOI
  10.1073/pnas.1618300114
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 276 patients from 169 kindreds2016
- Author(s)
  Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachee-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, et al.
- Journal Title
  
  Blood
  
  Volume: 127 Issue: 25 Pages: 3154-64
- DOI
  10.1182/blood-2015-11-679902
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-16K15528
[Journal Article] 1)Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation2016
- Author(s)
  Kataoka S, Muramatsu H, Okuno Y, Hayashi Y, Mizoguchi Y, Tsumura M, Okada S, Kobayashi M, Sano C, Sato H, Oh-Iwa I, Ito M, Kojima D Hama A, Takahashi Y, Kojima S
- Journal Title
  
  J Allergy Clin Immunol
  
  Volume: 137 Issue: 2 Pages: 619-622
- DOI
  10.1016/j.jaci.2015.06.028
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25461159, KAKENHI-PROJECT-25713039
[Journal Article] Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.2016
- Author(s)
  Okada S, Puel A, Casanova JL, Kobayashi M
- Journal Title
  
  Clin Transl Immunology.
  
  Volume: 5
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K15528
[Journal Article] Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets2016
- Author(s)
  Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, et al.
- Journal Title
  
  J Exp Med.
  
  Volume: 213 Issue: 8 Pages: 1589-608
- DOI
  10.1084/jem.20151467
- NAID
  120006959745
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16H05356, KAKENHI-PROJECT-16K15529, KAKENHI-PROJECT-16K15528
[Journal Article] Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants2016
- Author(s)
  Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S,Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M,Baghdadi JE, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J,Perez L, Danielian S, Ailal F, Takada H, Hara T, Anne Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Masao Kobayashi M.
- Journal Title
  
  J Allergy Clin Immunol.
  
  Volume: － Issue: 1 Pages: 232-241
- DOI
  10.1016/j.jaci.2016.09.035
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461576, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-16K10025, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09655, KAKENHI-PROJECT-16K15528
[Journal Article] A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.2016
- Author(s)
  Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M.
- Journal Title
  
  J. Clin. Immunol..
  
  Volume: 36 Issue: 1 Pages: 28-32
- DOI
  10.1007/s10875-015-0221-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-25713039
[Journal Article] Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome-like immunodeficiency.2016
- Author(s)
  Tsujita Y, et al.
- Journal Title
  
  J Allergy Clin Immunol.
  
  Volume: 138 Issue: 6 Pages: 1672-1680
- DOI
  10.1016/j.jaci.2016.03.055
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15H06186, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09710, KAKENHI-PROJECT-16K15528
[Journal Article] Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.2015
- Author(s)
  Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
- Journal Title
  
  N Engl J Med.
  
  Volume: 372 Issue: 25 Pages: 2409-22
- DOI
  10.1056/nejmoa1413462
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25713039
[Journal Article] Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.2015
- Author(s)
  Hirata O, Okada S, Ttsumura M, Karakawa S, Matsumura I, Kimura Y, Mihara T, Yasunaga S, Takihara Y, Ohara O, Kobayashi M
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 2015 Issue: 5 Pages: 1-5
- DOI
  10.1007/s10875-015-0165-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-15K09461, KAKENHI-PROJECT-26501004, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25713039
[Journal Article] Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.2015
- Author(s)
  Kreins A.Y, Ciancanelli M.J, Boisson-Dupuis S, et al.
- Journal Title
  
  J Exp Med.
  
  Volume: 212 Issue: 10 Pages: 1641-1662
- DOI
  10.1084/jem.20140280
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-15K15392, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-25713039
[Journal Article] Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.2015
- Author(s)
  Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, et al.
- Journal Title
  
  Nature
  
  Volume: 517 Issue: 7532 Pages: 667-76
- DOI
  10.1038/nature13801
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections.2015
- Author(s)
  Dobbs K, Conde CD, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
- Journal Title
  
  N Engl J Med
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25713039
[Journal Article] Impairment of IL-17A/F immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency.2015
- Author(s)
  Okada S, Markle JG, Deenick EK, Federico Mele F, Averbuch D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL
- Journal Title
  
  Science
  
  Volume: 349 Issue: 6248 Pages: 606-613
- DOI
  10.1126/science.aaa4282
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25713039
[Journal Article] Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.2015
- Author(s)
  Ma CS, Wong N, Tangye SG, et al.
- Journal Title
  
  J Allergy Clin Immunol
  
  Volume: 136 Issue: 4 Pages: 993-1006
- DOI
  10.1016/j.jaci.2015.05.036
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-15K15392, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-25713039
[Journal Article] DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections.2015
- Author(s)
  Dobbs K, Conde CD, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
- Journal Title
  
  N Engl J Med
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477
[Journal Article] A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.2014
- Author(s)
  Yasumura J, Wago M, Okada S, et al.
- Journal Title
  
  Mod Rheumatol.
  
  Volume: 20 Pages: 1-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25713039
[Journal Article] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.2014
- Author(s)
  Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.
- Journal Title
  
  J. Leukoc. Biol.
  
  Volume: 95 Issue: 4 Pages: 667-76
- DOI
  10.1189/jlb.0513250
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-23618008, KAKENHI-PUBLICLY-25118717, KAKENHI-PUBLICLY-25130708, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-25713039, KAKENHI-PROJECT-25870468, KAKENHI-PROJECT-26501004, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-26670502
[Journal Article] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.2014
- Author(s)
  Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.
- Journal Title
  
  J Leukoc Biol.
  
  Volume: 95 Issue: 4 Pages: 667-76
- DOI
  10.1038/jid.2013.480
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.2014
- Author(s)
  Yasumura J, Wago M, Okada S, Nishikomori R, Takei S, Kobayashi M
- Journal Title
  
  Modern Rheumatology
  
  Volume: 20 Pages: 1-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293231
[Journal Article] Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency2014
- Author(s)
  Ciancanelli MJ, Huang SX, Luthra, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, et al.
- Journal Title
  
  Science
  
  Volume: Epub Issue: 6233 Pages: 448-53
- DOI
  10.1126/science.aaa1578
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.2013
- Author(s)
  Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.
- Journal Title
  
  PLoS One
  
  Volume: 8 Issue: 3 Pages: e58286-e58286
- DOI
  10.1371/journal.pone.0058286
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.2013
- Author(s)
  Soltesz B, Toth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Tasko S, Sarkadi AK, Mehes L, Rozsival P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Marodi L.
- Journal Title
  
  J Med Genet.
  
  Volume: 50 Issue: 9 Pages: 567-78
- DOI
  10.1136/jmedgenet-2013-101570
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region.2013
- Author(s)
  Grant AV, El Baghdadi J, Sabri A, El Azbaoui S, Alaoui-Tahiri K, Abderrahmani Rhorfi I, Gharbaoui Y, Abid A, Benkirane M, Raharimanga V, Richard V, Orlova M, Boland A, Migaud M, Okada S, et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 92 Issue: 3 Pages: 407-14
- DOI
  10.1016/j.ajhg.2013.01.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis2013
- Author(s)
  Hirata, O.
- Journal Title
  
  Haematologica
  
  Volume: 98 Issue: 10 Pages: 1641-1649
- DOI
  10.3324/haematol.2013.083741
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-25118717, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039, KAKENHI-PROJECT-25870468
[Journal Article] Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.2013
- Author(s)
  Moncada-Velez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramirez-Alejo N, Okada S, et. al.
- Journal Title
  
  Blood
  
  Volume: 122 Issue: 14 Pages: 2390-401
- DOI
  10.1182/blood-2013-01-480814
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
[Journal Article] Identification of the integrin B3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis2012
- Author(s)
  Kobayashi Y
- Journal Title
  
  British Journal of Haematology
  
  Volume: 31 Issue: 4 Pages: 762-772
- DOI
  10.1111/bjh.12160
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591161, KAKENHI-PROJECT-23591429, KAKENHI-PROJECT-25293231
[Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases2010
- Author(s)
  Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M
- Journal Title
  
  Clinical Pediatric Endocrinology (in press)
- NAID
  10031199603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia : A report of 6 cases.2010
- Author(s)
  Nakamura-Utsunomiya A, Okada S, et al.
- Journal Title
  
  Clinical Pediatric Endocrinology (in press)
- NAID
  10031199603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD152009
- Author(s)
  Okada S, et al.
- Journal Title
  
  Rheumatology. 48
  
  Pages: 706-707
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation2009
- Author(s)
  Okada S, Konishi N, Tsumura M, Shirao K, Yasunaga S, Sakai H, Nishikomori R, Takihara Y, Kobayashi M
- Journal Title
  
  Rheumatology 48
  
  Pages: 706-707
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 新規ETHE1遺伝子変異を認めたエチルマロン酸脳症の1例2009
- Author(s)
  大坪善数, 白尾謙一郎, 岡田賢, 但馬剛, 佐倉伸夫, 楠本隆, 青木幹弘, 中下誠郎
- Journal Title
  
  小児科学会雑誌 113
  
  Pages: 739-744
- NAID
  10024843325
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 新規ETHE1遺伝子異を認めたエチルマロン酸脳症の1例2009
- Author(s)
  大坪善数, 白尾謙一郎, 岡田賢, 他
- Journal Title
  
  小児科学会雑誌 113
  
  Pages: 739-744
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 重症先天性好中球減少症の分子病態2009
- Author(s)
  小林正夫, 岡田賢, 溝口洋子
- Journal Title
  
  分子細胞治療 8
  
  Pages: 110-116
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 先天性好中球減少症2009
- Author(s)
  岡田賢, 石川暢恒, 小林正夫
- Journal Title
  
  小児科 50
  
  Pages: 1146-1151
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 先天性好中球減少症2009
- Author(s)
  岡田賢, 他
- Journal Title
  
  小児科 50
  
  Pages: 1146-1151
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008
- Author(s)
  Ishikawa N, Okada S (equally contributed), Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Takihara Y, Kobayashi M
- Journal Title
  
  J Med Genet 45
  
  Pages: 802-807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008
- Author(s)
  Ishikawa N, Okada S, et.al.
- Journal Title
  
  J. Med. Genet. 45
  
  Pages: 802-807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity2008
- Author(s)
  Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y
- Journal Title
  
  Proc Natl Acad Sci USA 105
  
  Pages: 10396-10401
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008
- Author(s)
  岡田賢, 他
- Journal Title
  
  小児科学会雑誌 112
  
  Pages: 1818-1825
- NAID
  10024842949
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008
- Author(s)
  Tajima G, Sakura N, Shirao K, Okada S, et.al.
- Journal Title
  
  Pediatr Res. 64
  
  Pages: 667-672
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 好中球異常による先天性免疫不全症2008
- Author(s)
  岡田賢, 他
- Journal Title
  
  小児科臨床 61
  
  Pages: 1791-1797
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008
- Author(s)
  岡田賢, 他
- Journal Title
  
  小児内科増刊号 40
  
  Pages: 1336-1347
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008
- Author(s)
  岡田賢, 末永麻由美, 川口浩史, 小林正夫
- Journal Title
  
  小児科学会雑誌 112
  
  Pages: 1818-1825
- NAID
  10024842949
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008
- Author(s)
  岡田賢, 水上智之, 布井博幸, 小林正夫
- Journal Title
  
  小児内科増刊号 40
  
  Pages: 1336-1347
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] 好中球異常による先天性免疫不全症2008
- Author(s)
  岡田賢, 津村弥来, 小林正夫
- Journal Title
  
  小児科臨床 61
  
  Pages: 1791-1797
- Data Source
  KAKENHI-PROJECT-20790731
[Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008
- Author(s)
  Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M
- Journal Title
  
  Pediatr Res 64
  
  Pages: 667-672
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790731
[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
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113
[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
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] 疾患や治療により身体機能・体力低下が生じた小児がん経験児の復学における困難とニーズ調査2024
- Author(s)
  加藤豊、武澤友宏、岡田賢、祖父江育子
- Organizer
  第21回日本小児がん看護学会学術集会
- Data Source
  KAKENHI-PROJECT-23K10154
[Presentation] Mendelian susceptibility to mycobacterial diseases2023
- Author(s)
  Satoshi Okada
- Organizer
  NTM Host Research Consortium International Workshop
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24302
[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
- Invited
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] 網羅的機能評価に基づくRELAナンセンス変異の病的意義の法則性の発見2023
- Author(s)
  早川博子、津村弥来、浅野孝基、仁平寛士、井澤和司、Isabelle Meyts、岡田賢
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Data Source
  KAKENHI-PROJECT-23K07268
[Presentation] Severe COVID-19 associate with impaired host immunity2023
- Author(s)
  Satoshi Okada
- Organizer
  Human Genetics Asia 2023
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] Mendelian susceptibility to mycobacterial diseases2023
- Author(s)
  Satoshi Okada
- Organizer
  NTM Host Research Consortium International Workshop
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113
[Presentation] 新生児マススクリーニング検査で同定されたRORγT欠損症2023
- Author(s)
  西村豊樹、黒木陽太、徳永成将、山元綾子、津村弥来、岡田賢、盛武浩
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] Defective type I interferon in severe COVID-192023
- Author(s)
  Satoshi Okada
- Organizer
  JSPSAAE
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113
[Presentation] 網羅的機能評価に基づくRELAナンセンス変異の病的意義の法則性の発見2023
- Author(s)
  早川博子、津村弥来、浅野孝基、仁平寛士、井澤和司、Isabelle Meyts、岡田賢
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] TCF3 E555K変異の分子病態と特殊性に対する検証2023
- Author(s)
  内海孝法、浅野孝基、津村弥来、八代将登、　加藤善一郎、大西秀典、金兼弘和、岡田賢
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Data Source
  KAKENHI-PROJECT-23K07268
[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
- Invited
- Data Source
  KAKENHI-PROJECT-22KK0113
[Presentation] 新生児マススクリーニング検査で同定されたRORγT欠損症2023
- Author(s)
  西村豊樹、黒木陽太、徳永成将、山元綾子、津村弥来、岡田賢、盛武浩
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Data Source
  KAKENHI-PROJECT-23K07268
[Presentation] Defective type I interferon in severe COVID-192023
- Author(s)
  Satoshi Okada
- Organizer
  JSPSAAE
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] TCF3 E555K変異の分子病態と特殊性に対する検証2023
- Author(s)
  内海孝法、浅野孝基、津村弥来、八代将登、　加藤善一郎、大西秀典、金兼弘和、岡田賢
- Organizer
  第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] Severe COVID-19 associate with impaired host immunity2023
- Author(s)
  Satoshi Okada
- Organizer
  Human Genetics Asia 2023
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22KK0113
[Presentation] 本邦におけるI型インターフェロンに対する自己抗体とCOVID-19重症化の関連性の検討2022
- Author(s)
  江藤昌平、津村弥来、永島慎太郎、Paul Bastard、岡本圭祐、鹿島田健一、遠藤明史、溝口洋子、田中純子、中釜　悠、城戸康年、貫井陽子、今井耕輔、金兼弘和、小原　收、森尾友宏、Jean-Laurent Casanova、岡田　賢
- Organizer
  第50回日本臨床免疫学会総会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] IL17RC新規重複変異による慢性粘膜皮膚カンジダ症2022
- Author(s)
  野間康輔、津村弥来、浅野孝基、溝口洋子、荘司貴代、岡田賢
- Organizer
  第6回日本免疫不全・自己炎症学会総会・学術集会
- Data Source
  KAKENHI-PROJECT-20K08158
[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
- Invited
- Data Source
  KAKENHI-PROJECT-22KK0113
[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
- Invited
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] COVID-19重症化とI型インターフェロン中和抗体の保有状況との関連性の検討2022
- Author(s)
  江藤昌平、津村弥来、永島慎太郎、Paul Bastard、岡本圭祐、鹿島田健一、遠藤明史、溝口洋子、田中純子、中釜悠、城戸康年、貫井陽子、今井耕輔、金兼弘和、森尾友宏、Casanova Jean-Laurent、岡田賢
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] Chronic mucocutaneous candidiasis disease due to a novel duplication mutation of IL17RC2022
- Author(s)
  Kosuke Noma, Miyuki Tsumura, Takaki Asano, Yoko Mizoguchi, Takayo Shoji, Satoshi Okada
- Organizer
  20th Biennial Meeting of the European Society for Immunodeficiencies
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] 本邦初の常染色体顕性IL6ST 異常症の2症例の同定と分子病態の解明2022
- Author(s)
  芦原康介、浅野孝基、野間康輔、津村弥来、豊福悦史、関根朗雅、今井耕輔、岡田賢
- Organizer
  第6回日本免疫不全・自己炎症学会総会・学術集会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] 原発性免疫不全症とウイルス感染　～新型コロナウイルスと宿主免疫～2022
- Author(s)
  岡田賢
- Organizer
  第5回日本免疫不全・自己炎症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[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
- Invited
- Data Source
  KAKENHI-PROJECT-22KK0113
[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
- Invited
- Data Source
  KAKENHI-PROJECT-23K24302
[Presentation] 本邦におけるCOVID-19重症度別Ⅰ型インターフェロン中和抗体保有状況の算出およびCOVID-19重症化スクリーニングの検討2022
- Author(s)
  江藤昌平、津村弥来、永島慎太郎、Paul Bastard、岡本圭祐、鹿島田健一、遠藤明史、溝口洋子、田中純子、中釜悠、城戸康年、貫井陽子、今井耕輔、金兼弘和、森尾友宏、Jean-Laurent Casanova、岡田賢
- Organizer
  第５回日本免疫不全・自己炎症学会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] メンデル遺伝型マイコバクテリア易感染症における多発性骨髄炎の発症メカニズムの解明2022
- Author(s)
  津村弥来、三木瑞香、溝口洋子、早川誠一、岡田賢
- Organizer
  第５回日本免疫不全・自己炎症学会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] 中枢神経症状を呈する原発性免疫不全症2021
- Author(s)
  岡田賢
- Organizer
  第4回日本免疫不全・自己炎症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 新型コロナウイルス感染症の重症化と宿主因子2021
- Author(s)
  岡田賢
- Organizer
  第53回日本小児感染症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 免疫不全症2021
- Author(s)
  岡田賢
- Organizer
  日本小児血液がん学会・教育セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 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2021
- Author(s)
  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
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] Augmentation of osteoclast formation and its function in patients with MSMD due to impaired to IFN-γ2021
- Author(s)
  Miyuki Tsumura、Mizuka Miki、Yoko Mizoguchi、Reiko Kagawa、Seiichi Hayakawa、Satoshi Okada
- Organizer
  European Society for Immunodeficiencies2021
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] 中枢神経症状を呈する原発性免疫不全症2021
- Author(s)
  岡田賢
- Organizer
  第4回日本免疫不全・自己炎症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 内分泌障害を合併する原発性免疫不全症2021
- Author(s)
  岡田賢
- Organizer
  第54回日本小児内分泌学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 宿主免疫の異常と内分泌障害2021
- Author(s)
  岡田賢
- Organizer
  第31回臨床内分泌代謝Update
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] リンパ増殖性疾患と原発性免疫不全2020
- Author(s)
  岡田賢
- Organizer
  第82回日本血液学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 原発性免疫不全症とウイルス感染症2020
- Author(s)
  岡田賢
- Organizer
  第82回日本血液学会学術集会
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 新型コロナウイルス感染と宿主免疫2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] CARD9 deficiency in a patient with invasive infection due to Exophiala dermatitidis and the aymptomatic siblings2020
- Author(s)
  Yusuke Imanakal, Maki Taniguchil, Takehiko Doi, Maiko Shimomura, Miyuki Tsumura, Shuhei Karakawa, Kohsuke Imai, Tomohiro Morio, Anne Puel, Jean-Laurent Casanova, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada
- Organizer
  19th biennial meeting of The European Society for Immunodeficiencies
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] 新型コロナウイルス感染と宿主免疫2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] A case of RUNX1-associated platelet disorder treated with BMT before onset of myeloid malignancy2020
- Author(s)
  Maiko Shimomura,Takehiko Doi,Shouhei Yamaoka,Risa Matsumura,Miyuki Tsumura,Shuhei Karakawa,Shinji Mochizuki,Hiroshi Kawaguchi,Satoshi Okada
- Organizer
  第62回日本小児血液・がん学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08158
[Presentation] リンパ増殖性疾患と原発性免疫不全2020
- Author(s)
  岡田賢
- Organizer
  第82回日本血液学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 成人期における原発性免疫不全症2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 本邦初の常染色体劣性遺伝STAT1完全欠損症2020
- Author(s)
  坂田園子、岡田賢、松林正、玉浦萌、津村弥来、唐川修平、岡野翼、今井耕輔、森尾友宏、Jean-Laurent Casanova、小林正夫
- Organizer
  第3回日本免疫不全・自己炎症学会総会・学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] 原発性免疫不全症とウイルス感染症2020
- Author(s)
  岡田賢
- Organizer
  第82回日本血液学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 成人期における原発性免疫不全症2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 免疫疾患の遺伝的背景2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 免疫疾患の遺伝的背景2020
- Author(s)
  岡田賢
- Organizer
  第48回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] アンチセンス核酸によるG6PC高頻度スプライシング変異の発現修復2019
- Author(s)
  但馬剛、津村弥来、岡田賢、小比賀聡
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] 反復する風邪, 重症インフルエンザ感染症・・・：免疫不全症ではないですか？2019
- Author(s)
  岡田賢
- Organizer
  日本小児科学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 当院で経験した完全型アンドロゲン受容体異常症の5例2019
- Author(s)
  岡田賢, 坂田園子, 香川礼子, 宇都宮朱里, 兵頭麻希, 神野和彦, 小林正夫
- Organizer
  日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 全国施行が実現したCPT2欠損症マススクリーニングの現状報告2019
- Author(s)
  但馬剛、原圭一、香川礼子、宇都宮朱里、津村弥来、岡田賢、湯浅光織、畑郁江、重松陽介、山口清次
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] 当院で経験した完全型アンドロゲン受容体異常症の5例2019
- Author(s)
  岡田賢, 坂田園子, 香川礼子, 宇都宮朱里, 兵頭麻希, 神野和彦, 小林正夫
- Organizer
  日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] Primary immunodeficiency caused by gain-of-function mutations in STAT12019
- Author(s)
  Satoshi Okada
- Organizer
  Infectious Diseases Society of Taiwan
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019
- Author(s)
  岡田賢
- Organizer
  日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019
- Author(s)
  岡田賢
- Organizer
  日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] Exophiala dermatitidisによる全身性黒色真菌感染症を発症したCARD9欠損症の一例2019
- Author(s)
  今中雄介、岡田賢、長岡里枝、谷口真紀、下村麻衣子、津村弥来、唐川修平、土居岳彦、小林正夫
- Organizer
  第47回日本臨床免疫学会総会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019
- Author(s)
  岡田賢、今中雄介、津村弥来、落合博、中田慎一郎、小原收、山本卓、小林正夫
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] A mouse model of human disease caused by gain-of-function STAT1 mutation2019
- Author(s)
  Moe Tamaura, Naoko Satoh-Takayama, Miyuki Tsumura, Takaharu Sasaki, Satoshi Goda, Tomoko Kageyama, Seiichi Hayakawa, Shunsuke Kimura, Takaki Asano, Manabu Nakayama, Haruhiko Koseki, Osamu Ohara, Satoshi Okada, Hiroshi Ohno , Masao Kobayashi
- Organizer
  The 2019 Focused Meeting og the European Society for Immunodeficiencies
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] 標識脂肪酸負荷末梢血単核球中のアシルカルニチン比による脂肪酸代謝異常症の診断2019
- Author(s)
  湯浅光織、畑郁江、杉原啓一、磯崎由宇子、重松陽介、大嶋勇成、津村弥来、香川礼子、岡田賢、原圭一、但馬剛
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019
- Author(s)
  岡田賢、今中雄介、津村弥来、落合博、中田慎一郎、小原收、山本卓、小林正夫
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] A mouse model of human disease caused by gain-of-function STAT1 mutation2019
- Author(s)
  Moe Tamaura，Naoko Satoh，Miyuki Tsumura，Takaharu Sasaki， Shunsuke Kimura，Tomoko Kageyama，Seiichi Hayakawa， Takaki Asano，Satoshi Goda，Manabu Nakayama，Haruhiko Koseki， Osamu Ohara，Satoshi Okada，Hiroshi Ohno，Masao Kobayashi
- Organizer
  第81回日本血液学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] Gain-of-function IKBKB mutation causes human combined immune deficiency2019
- Author(s)
  K. Tanita, C Cardinez, B. Miraghanzadeh, A. Hoshino, S. Okada, T. Asano, M. Tsumura, H. Ohnishi, Z. Kato, T. Morio, C.G. Vinuesa, H. Kanegane, M.C. Cook
- Organizer
  第2回日本免疫不全・自己炎症学会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] The first intronic mutations which caused autosomal recessive complete STAT1 deficiency2019
- Author(s)
  Sonoko Sakata,Satoshi Okada,Tadashi Matsubayashi,Moe Tamaura,Miyuki Tsumura,Tsubasa Okano,Kosuke Imai, Jacinta Bustamante,Tomohiro Morio,Jean-Laurent Casanova, Masao Kobayashi
- Organizer
  The 2019 Focused Meeting og the European Society for Immunodeficiencies
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] Primary immunodeficiency caused by gain-of-function mutations in STAT12019
- Author(s)
  Satoshi Okada
- Organizer
  Infectious Diseases Society of Taiwan
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 原発性免疫不全症患者の分子学的診断2019
- Author(s)
  岡田賢
- Organizer
  第2回日本免疫不全・自己炎症学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] 反復する風邪, 重症インフルエンザ感染症・・・：免疫不全症ではないですか？2019
- Author(s)
  岡田賢
- Organizer
  日本小児科学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03620
[Presentation] 原発性免疫不全症患者の分子学的診断2019
- Author(s)
  岡田賢
- Organizer
  第2回日本免疫不全・自己炎症学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] IKBKB機能獲得変異による新奇遅発発症複合免疫不全症2018
- Author(s)
  谷田けい、星野顕宏、岡田賢、浅野孝基、津村弥来、大西秀典、加藤善一郎、山崎雅英、森尾友宏、金兼弘和
- Organizer
  第46回日本臨床免疫学会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] STAT1 gain of function etiology, molecular biology, and treatment2018
- Author(s)
  Satoshi Okada
- Organizer
  The 2nd APSID Scientific Congress
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] 未来を担う若手への『研究』のススメ2018
- Author(s)
  岡田賢
- Organizer
  第46回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] アンチセンス核酸によるG6PCスプライシング変異c.648G>Tの発現修復2018
- Author(s)
  但馬剛、岡田賢、津村弥来
- Organizer
  第60回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] HSCT in Patients with STAT1 Gain-of-function Mutation2018
- Author(s)
  Satoshi Okada
- Organizer
  2018 the Korean Society of Pediatric Hematology-Oncology Autumn Meeting
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] CPT2欠損症スクリーニング新指標の有用性　最近の診断例を加えた検討2018
- Author(s)
  但馬剛、原圭一、香川礼子、津村弥来、岡田賢、湯浅光織、畑郁江、重松陽介、山口清次
- Organizer
  第45回日本マス・スクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] Anti-Methyl-D-Aspartate Receptor Encephalitis Associated with IRAK4 Deficiency2018
- Author(s)
  T. Asano, S. Nishimura, Y. Kobayashi, M. Tsumura, N. Ishikawa, H. Ohnishi, H. Takada, V. Sancho-Shimizu, K. Moriya, A. Puel, C. Picard, S.R. Irani, J.L. Casanova, S. Okada, M. Kobayashi
- Organizer
  18th European Society for Immunodeficiencies
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] MSMD update2018
- Author(s)
  岡田賢
- Organizer
  第60回日本小児血液・がん学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] 抗N-methyl-D-aspartate(NMDA)受容体脳炎を契機に診断に至ったIRAK4欠損症2018
- Author(s)
  浅野孝基、西村志帆、小林良行、津村弥来、石川暢恒、大西秀典、高田英俊、Sancho-Shimizu Vanessa、森谷邦彦、Puel Anne、Picard Capucine、Irani Sarosh R.、Casanova Jean-Laurent、岡田賢、小林正夫
- Organizer
  第46回日本臨床免疫学会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] HSCT in Patients with STAT1 Gain-of-function Mutation2018
- Author(s)
  Satoshi Okada
- Organizer
  2018 the Korean Society of Pediatric Hematology-Oncology Autumn Meeting
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] STAT1機能獲得型変異による原発性免疫不全症2018
- Author(s)
  岡田賢
- Organizer
  第1 回日本免疫不全・自己炎症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] STAT1機能獲得型変異による原発性免疫不全症患者に対する造血幹細胞移植の有効性と問題点の検討2018
- Author(s)
  岡田賢, Jennifer W. Leiding, Troy R. Torgerson, 今井耕輔, 井口晶裕, 有賀正, 小林正夫
- Organizer
  第40回日本造血細胞移植学会総会
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] 新指標(C16+C18:1)/C2 & C14/C3によるCPT2欠損症の新生児マススクリーニング2018
- Author(s)
  但馬剛、原圭一、津村弥来、香川礼子、岡田賢、湯浅光織、畑郁江、重松陽介、山口清次
- Organizer
  第60回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-17K10112
[Presentation] STAT1機能獲得型変異による原発性免疫不全症2018
- Author(s)
  岡田賢
- Organizer
  第1 回日本免疫不全・自己炎症学会総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] STAT1機能獲得型変異による原発性免疫不全症患者に対する造血幹細胞移植の有効性と問題点の検討2018
- Author(s)
  岡田賢, Jennifer W. Leiding, Troy R. Torgerson, 今井耕輔, 井口晶裕, 有賀正, 森尾友宏, 小林正夫
- Organizer
  第40回日本造血細胞移植学会総会
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] MSMD update2018
- Author(s)
  岡田賢
- Organizer
  第60回日本小児血液・がん学会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] 未来を担う若手への『研究』のススメ2018
- Author(s)
  岡田賢
- Organizer
  第46回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-18KK0228
[Presentation] Asfotase Alfa投与によりミオパチー症状の軽快を得た成人型低ホスファターゼ症2017
- Author(s)
  岡田賢, 坂田園子, 香川礼子, 宇都宮朱里, 立川加奈子, 北岡太一, 道上敏美, 大薗恵一, 小林正夫
- Organizer
  第90回日本内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] Asfotase Alfa投与によりミオパチー症状の軽快を得た成人型低ホスファターゼ症2017
- Author(s)
  岡田賢, 坂田園子, 香川礼子, 宇都宮朱里, 立川加奈子, 北岡太一, 道上敏美, 大薗恵一, 小林正夫
- Organizer
  第90回日本内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] Primary immunodeficiency associate with functional defect of RORγT2016
- Author(s)
  Satoshi Okada, Janet Markle, Anne Puel, Masao Kobayashi, Jean-Laurent Casanova
- Organizer
  The 39th Annual Meeting of the Molecular Biology
- Place of Presentation
  横浜
- Year and Date
  2016-11-30
- Invited
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] Alanine-scanning mutagenesis of human STAT1 to estimate the loss- or gain-offunction nature of variants2016
- Author(s)
  Satoshi Okada, Ryoji Fujiki, Reiko Kagawa, Miyuki Tsumura, Xiaofei Kong, Sonoko Sakata, Shiho Nishimura, Zenichiro Kato, Hidenori Ohnishi, Yuval Itan, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
- Organizer
  17th Biennial Meeting of the European Society for immunodeficiencies
- Place of Presentation
  Barcelona (Spain)
- Year and Date
  2016-09-21
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] Loss-of-function and dominant negative STAT1 coiled-coil domain mutations in MSMD2016
- Author(s)
  Satoshi Okada, Reiko Kagawa, Ryoji Fujiki, Zenichiro Kato, Hidenori Ohnishi, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
- Organizer
  Congress of Asia Pacific Society for Immunodeficiencies
- Place of Presentation
  Hong Kong (China)
- Year and Date
  2016-04-30
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] Alanine-scanning mutagenesis of human STAT1 to estimate the loss- or gain-of-function nature of variants2016
- Author(s)
  Satoshi Okada, Ryoji Fujiki, Reiko Kagawa, Miyuki Tsumura, Xiaofei Kong, Sonoko Sakata, Shiho Nishimura, Zenichiro Kato, Hidenori Ohnishi, Yuval Itan, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
- Organizer
  17th Biennial Meeting of the European Society for immunodeficiencies
- Place of Presentation
  Barcelona (Spain)
- Year and Date
  2016-09-21
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] Loss-of-function and dominant negative STAT1 coiled-coil domain mutations in MSMD2016
- Author(s)
  Satoshi Okada, Reiko Kagawa, Ryoji Fujiki, Zenichiro Kato, Hidenori Ohnishi, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
- Organizer
  Congress of Asia Pacific Society for Immunodeficiencies
- Place of Presentation
  Hong Kong (China)
- Year and Date
  2016-04-30
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] International survey of clinical manifestations of patients with STAT1 gain-of-function mutations2016
- Author(s)
  岡田賢, 津村弥来, 西村志帆, 坂田園子, 香川礼子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
- Organizer
  第78回日本血液学会
- Place of Presentation
  横浜
- Year and Date
  2016-10-13
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] Primary immunodeficiency associate with functional defect of RORγT2016
- Author(s)
  Satoshi Okada, Janet Markle, Anne Puel, Masao Kobayashi, Jean-Laurent Casanova
- Organizer
  The 39th Annual Meeting of the Molecular Biology
- Place of Presentation
  横浜
- Year and Date
  2016-11-30
- Invited
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] STAT1機能獲得型変異を有する原発性免疫不全症患者の臨床症状の国際調査2016
- Author(s)
  岡田賢, 津村弥来, 西村志帆, 坂田園子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
- Organizer
  第44回日本臨床免疫学会
- Place of Presentation
  東京
- Year and Date
  2016-09-08
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] STAT1機能獲得型変異を有する原発性免疫不全症患者の臨床症状の国際調査2016
- Author(s)
  岡田賢, 津村弥来, 西村志帆, 坂田園子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
- Organizer
  第44回日本臨床免疫学会
- Place of Presentation
  東京
- Year and Date
  2016-09-08
- Data Source
  KAKENHI-PROJECT-16H05355
[Presentation] International survey of clinical manifestations of patients with STAT1 gain-offunction mutations2016
- Author(s)
  岡田賢, 津村弥来, 西村志帆, 坂田園子, 香川礼子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
- Organizer
  第78回日本血液学会
- Place of Presentation
  横浜
- Year and Date
  2016-10-13
- Data Source
  KAKENHI-PROJECT-16K15528
[Presentation] Impairment of IL-17 immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency2015
- Author(s)
  Satoshi Okada, Janet Markle, Anne Puel, Jacinta Bustamante, Masao Kobayashi, and Jean-Laurent Casanova
- Organizer
  The 44th Annual Meeting of the Japanese Society for Immunology
- Place of Presentation
  Sapporo
- Year and Date
  2015-11-18
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] Impairment of IL-17 immunity to Candida and IFNγ immunity to Mycobacterium in humans with bi-allelic Rorc mutations.2015
- Author(s)
  Okada S, Markle J, Kobayashi M, Bustamante J, Casanova JL
- Organizer
  The 57th American Society of Hematology Annual Meeting and Exposition
- Place of Presentation
  Orlando, FL, USA
- Year and Date
  2015-12-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293231
[Presentation] RORγT 異常による原発性免疫不全症2015
- Author(s)
  岡田賢, 小林正夫
- Organizer
  日本人類遺伝学会　第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] 慢性皮膚粘膜カンジダ症～IL-17異常を分子基盤とした原発性免疫不全症～2015
- Author(s)
  岡田賢
- Organizer
  第25回日本小児リウマチ学会　総会・学術集会
- Place of Presentation
  金沢
- Year and Date
  2015-04-26
- Invited
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] MSMD Patients with IFN-γ-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption.2015
- Author(s)
  Nishimura S, Tsumura M, Hirata O, Reiko Kagawa, Mizoguchi Y, Okada S, Kobayashi M
- Organizer
  The 57th American Society of Hematology Annual Meeting and Exposition
- Place of Presentation
  Orlando, FL, USA
- Year and Date
  2015-12-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293231
[Presentation] Chronic Mucocutaneous Candidiasis2015
- Author(s)
  Satoshi Okada
- Organizer
  Pediatric Academic Societies annual meeting 2015
- Place of Presentation
  San Diego (USA)
- Year and Date
  2015-04-26
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] 新生児期の好中球減少症2014
- Author(s)
  岡田　賢
- Organizer
  日本産婦人科・新生児血液学会学術集会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-25670477
[Presentation] 新生児期の好中球減少症2014
- Author(s)
  岡田　賢
- Organizer
  日本産婦人科・新生児血液学会学術集会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] STAT1異常による原発性免疫不全症2013
- Author(s)
  岡田　賢
- Organizer
  日本小児科学会
- Place of Presentation
  広島
- Data Source
  KAKENHI-PROJECT-25670477
[Presentation] Genetic characteristic of patients with severe congenital neutropenia in Japan.2013
- Author(s)
  Masao Kobayashi, Yoko Mizoguchi, Shuhei Karakawa, Satoshi Okada, Hiroshi Kawaguchi, Kazuhiro Nakamura
- Organizer
  27th International Congress of Pediatrics
- Place of Presentation
  Melbourne, Australia
- Data Source
  KAKENHI-PROJECT-25293231
[Presentation] STAT1異常による原発性免疫不全症2013
- Author(s)
  岡田　賢
- Organizer
  日本小児科学会
- Place of Presentation
  広島
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] MSUD の酵素診断:正常活性を示すロイシン持続高値同胞例の BCKDK 遺伝子解析2012
- Author(s)
  香川礼子,津村弥来,原圭一,岡田賢,但馬剛,佐倉伸夫,徳原大介,岡野善行
- Organizer
  第54回日本先天代謝異常学会
- Place of Presentation
  岐阜市
- Data Source
  KAKENHI-PROJECT-22591131
[Presentation] Enzymatic diagnosis of maple syrup urine disease in Japan : application of HPLC-based radioisotope-free method measuring isovaleryl-CoA production2011
- Author(s)
  但馬剛, 津村弥来, 岡田賢, 他
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
- Place of Presentation
  ジュネーブ,スイス
- Data Source
  KAKENHI-PROJECT-22591131
[Presentation] Enzymatic diagnosis of maple syrup urine disease in Japan: application of HPLC-based radioisotope-free method measuring isovaleryl-CoA production2011
- Author(s)
  Go Tajima, Miyuki Tsumura, Yoko Mizoguchi, Akari Utsunomiya, Keiichi Hara, Satoshi Okada, Yoshiyuki Okano, Nobuo Sakura, Masao Kobayashi
- Organizer
  Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2011
- Place of Presentation
  Geneva, Switzerland.
- Data Source
  KAKENHI-PROJECT-22591131
[Presentation] Congenital Neutropenia in Japan2010
- Author(s)
  Okada S
- Organizer
  The 2nd Symposium for PID in Asia
- Place of Presentation
  Chiba
- Year and Date
  2010-05-02
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 先天性好中球減少圧と血液瘍2009
- Author(s)
  岡田賢, 他
- Organizer
  第71回日本血液学会
- Place of Presentation
  京都
- Year and Date
  2009-10-25
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 重症先天性好中球減少症, 周期性好中球減少症におけるELA2解析2009
- Author(s)
  岡田賢, 他
- Organizer
  第71回日本血液学会
- Place of Presentation
  京都
- Year and Date
  2009-10-25
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency : Relevance of Genotype for Clinical Course2009
- Author(s)
  Nakamura A, Okada S, et al
- Organizer
  ENDO 2009 : The 91nd Annual Meeting & Expc
- Place of Presentation
  Washington, USA
- Year and Date
  2009-06-11
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 重症先天性好中球少症,周期性好中球減少症におけるELLA2解析2009
- Author(s)
  岡田賢, 他
- Organizer
  第71回日本血液学会
- Place of Presentation
  京都
- Year and Date
  2009-10-25
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Clinical Course. ENDO 20092009
- Author(s)
  Nakamura A, Okada S, et al
- Organizer
  The 91nd Annual Meeting & Expo
- Place of Presentation
  Washington, USA
- Year and Date
  2009-06-11
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] A novel splicing mutation in NEMO gene in a patient with X-linked ectodermal dysplasia with immunodeficiency2009
- Author(s)
  Karakawa S, Okada S, et al
- Organizer
  51th ASH annual meeting
- Place of Presentation
  New Orleans, USA
- Year and Date
  2009-12-06
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 先天性好中球減少症と血液腫瘍2009
- Author(s)
  岡田賢, 他
- Organizer
  第71回日本血液学会
- Place of Presentation
  京都
- Year and Date
  2009-10-25
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] Novel Heterozygous Mutation 572 insA in TACI Identified in a Patient with Selective IgA Deficiency2008
- Author(s)
  Okada S, et.al.
- Organizer
  50th ASH annual meeting
- Place of Presentation
  San Francisco, USA
- Year and Date
  2008-12-06
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 重症先天性好中球減少症の遺伝子解析2008
- Author(s)
  岡田賢, 他
- Organizer
  第70回日本血液学会
- Place of Presentation
  京都
- Year and Date
  2008-10-11
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency2008
- Author(s)
  Okada S, et al
- Organizer
  50th ASH annual meeting
- Place of Presentation
  San Francisco, USA
- Year and Date
  2008-12-06
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 重症先天性好中球減少症の遺伝子解析2008
- Author(s)
  岡田賢, 他
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京
- Year and Date
  2008-04-27
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] 重症先天性好中球減少症の遺伝子解析2008
- Author(s)
  岡田賢, 他
- Organizer
  第70回日本血液学会, 第50回日本臨床血液学会
- Place of Presentation
  京都
- Year and Date
  2008-10-11
- Data Source
  KAKENHI-PROJECT-20790731
[Presentation] Chronic Mucocutaneous Candidiasis
- Author(s)
  Okada S
- Organizer
  Pediatric Academic Society annual meeting 2015
- Place of Presentation
  San Diego, USA
- Year and Date
  2015-04-25 – 2015-04-28
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] 新生児期の好中球減少症
- Author(s)
  岡田賢, 中村和洋, 小林正夫
- Organizer
  第24回日本産婦人科・新生児血液学会学術集会
- Place of Presentation
  横浜
- Year and Date
  2014-06-13 – 2014-06-14
- Invited
- Data Source
  KAKENHI-PROJECT-25670477
[Presentation] 新生児期の好中球減少症
- Author(s)
  岡田　賢, 中村和洋, 小林正夫
- Organizer
  第2回日本産婦人科・新生児血液学会学術集会
- Place of Presentation
  横浜
- Year and Date
  2014-06-13 – 2014-06-14
- Invited
- Data Source
  KAKENHI-PROJECT-25713039
[Presentation] STAT1 gain-of-function in patients with chronic mucocutaneous candidiasis can be detected by the excessive phosphorylation of STAT1 in peripheral blood monocytes.
- Author(s)
  Yoko Mizoguchi, Satoshi Okada, Miyuki Tsumura, Osamu Hirata, Shizuko Minegishi, Jean-Laurent Casanova, Tomohiro Morio, Masao Kobayashi
- Organizer
  The 56th American Society of Hematology Annual Meeting and Expositio
- Place of Presentation
  San Francisco, CA, USA
- Year and Date
  2014-12-06 – 2014-12-09
- Data Source
  KAKENHI-PROJECT-25293231
[Presentation] Chronic Mucocutaneous Candidiasis
- Author(s)
  Okada S
- Organizer
  Pediatric Academic Society annual meeting 2015
- Place of Presentation
  San Diego, USA
- Year and Date
  2015-04-25 – 2015-04-28
- Data Source
  KAKENHI-PROJECT-25670477
[Presentation] Siginificant augmentation of regulatory T cells in early neonatal period.
- Author(s)
  Seiich Hayakawa, Seiko Maeno, Norioki Ohno, Satoshi Okada, Yutaka Nishimura, Michiko Hayashidani, Masao Kobayashi
- Organizer
  16th Biennial Meeting of the European Society for Immunodeficiencies
- Place of Presentation
  Prague, Czech
- Year and Date
  2014-10-29 – 2014-11-01
- Data Source
  KAKENHI-PROJECT-25293231

1. TSUMURA Miyuki (80646274)

# of Collaborated Projects: 11 results

# of Collaborated Products: 65 results
2. OHARA Osamu (20370926)

# of Collaborated Projects: 6 results

# of Collaborated Products: 7 results
3. 浅野孝基 (50835501)

# of Collaborated Projects: 3 results

# of Collaborated Products: 21 results
4. Yamamoto Takashi (90244102)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
5. 金兼弘和 (00293324)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
6. 早川誠一 (60815314)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
7. 坂田園子 (50897907)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
8. 溝口洋子 (30750533)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
9. TAJIMA Go (00432716)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
10. Kobayashi Masao (00162016)

# of Collaborated Projects: 1 results

# of Collaborated Products: 9 results
11. Nakamura Kazuhiro (70363059)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
12. 川島祐介 (30588124)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 祖父江育子 (80171396)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
14. 三上幸夫 (80422129)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 前田慶明 (10536783)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. 中村マリ子 (40979308)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 笹木忍 (90326306)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. 武澤友弘 (30979307)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
19. 土路生明美 (00347626)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. 本多直子 (50746617)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. 加藤豊 (10983174)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
22. KAGAWA Reiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
23. UTSUNOMIYA Akari

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
24. NISHIMURA shiho

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
25. SAITO satoshi

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
26. IMAI Kohsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
27. SANO Chiaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. YAMADA Kenji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 金澤伸雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 松浦伸也

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 宮本達雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 阿久津シルビア夏子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 保科隆之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. 楠原浩一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 木田佳子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 森尾友宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 玉浦萌

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
38. 野々山恵章

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
39. 谷内一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
40. 濱崎純

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 水野晴夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
42. 小川誠司

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
43. 江藤正俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
44. 西小森隆太

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
45. 山口清次

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
46. 加藤善一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
47. 高田英俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
48. 大西秀典

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
49. 江藤浩之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Okada Satoshi 岡田 賢

OKADA Satoshi 岡田 賢

Research Projects

Research Products

Co-Researchers

Elucidation of the molecular pathogenesis of autosomal dominant ReAl deficiency

Principal Investigator

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The partnerships with schools by providing ongoing school visitation support by healthcare professionals for pediatric cancer patients with physical and functional declines.

Principal Investigator

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Review Section

Research Institution

Study of trisomy21 umbilical cord-derived mesenchymal stem cell therapy in bronchopulmonary dysplasia

Principal Investigator

Project Period (FY)

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Review Section

Research Institution

Long-read sequencing analysis for difficult to diagnose cases of primary immunodeficiencyPrincipal Investigator

Principal Investigator

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Review Section

Research Institution

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

Principal Investigator

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Review Section

Research Institution

Characterization of the mechanism of combined immunodeficiency due to ubiquitin modification abnormalities

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogensPrincipal Investigator

Principal Investigator

Project Period (FY)

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Review Section

Research Institution

Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiencyPrincipal Investigator

Principal Investigator

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Review Section

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Molecular pathological analysis of infectious disease development using gain-of-function STAT1 knock-in mice.

Principal Investigator

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Research Institution

Investigation of molecular mechanism and therapeutic target of Chronic Mucocutaneous CandidiasisPrincipal Investigator

Principal Investigator

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Research Institution

Development of the treatment by investigating the mechanism of disseminated BCG in patients with RORgT deficiencyPrincipal Investigator

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Gene editing of iPS cells derived from patients with congenital phagocytic disorders

Principal Investigator

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Establishment of mouse model of chronic mucocutaneous candidiasis disease and use them to find therapeutic targetPrincipal Investigator

Principal Investigator

Project Period (FY)

Okada Satoshi 岡田賢

OKADA Satoshi 岡田賢

[Book] 原発性免疫不全症症候群　診療の手引き2017

[Book] 原発性免疫不全症症候群　診療の手引き2017

[Book] 日本臨床免疫症候群III2016

[Book] 日本臨床免疫症候群III2016