Tsumura Miyuki 津村弥来

… Alternative Names

TSUMURA Miyuki 津村弥来

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Researcher Number	80646274
Other IDs
Affiliation (Current)	2025: 広島大学, 医系科学研究科(医), 研究員
Affiliation (based on the past Project Information) *help	2019 – 2024: 広島大学, 医系科学研究科(医), 研究員 2017 – 2018: 広島大学, 医歯薬保健学研究科(医), 研究員 2013 – 2016: 広島大学, 医歯薬保健学研究院(医), 研究員 2015: 広島大学, 大学院医歯薬保健学研究院, 研究員 2014: 広島大学, 医師薬保健学研究院, 研究員 2013: 広島大学, 医歯薬保健学研究院, 研究員 2012: 広島大学, 大学院・医歯薬保健学研究院, 研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Orthopaedic surgery / Immunology Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 49:Pathology, infection/immunology, and related fields
Keywords	Principal Investigator 原発性免疫不全症 / iPS細胞 / 骨リモデリング / STAT1 / IFN-γ / 破骨細胞 / 食細胞異常 / 半量不全 / 優性阻害 / 免疫異常 … More / RELA / ユビキチン修飾異常 / 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 / MSMD / IFNGR1 / IFN-γR1 / 骨髄炎 … More Except Principal Investigator 原発性免疫不全症 / STAT1 / 慢性皮膚粘膜カンジダ症 / MSMD / RORγT / 全エクソーム解析 / CMC / RORC / マウス / IL-17 / CMCD / 遺伝子編集 / iPS細胞 / 先天性好中球減少症 / 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 / 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 / 好中球アポトーシス / SRP54 / 疾患特異的iPS細胞 / アポトーシス / 好中球エラスターゼ / 好中球減少症 / 末梢リンパ節 / マイコバクテリア / BCG / マイコバクテリア易感染症 / CMD / カンジダ / 機能獲得型変異 / 疾患モデルマウス / 造血細胞移植 / IL17RA / STAT1機能獲得型変異 / 治療 / ノックインマウス / TALEN / 遺伝子修復 / 人工ヌクレアーゼ / 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 deficiencyPrincipal Investigator
- 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
Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to viruses
- 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 abnormalitiesPrincipal Investigator
- 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 pathogens
- 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
Gene editing for the study of severe congenital neutropenia
- Principal Investigator
  
  Kobayashi Masao
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hiroshima University
Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiency
- 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
- 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 Candidiasis
- 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 deficiency
- 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
Augmentation of osteoclast formation and its function in patients with IFN-g signaling abnormalityPrincipal Investigator
- Principal Investigator
  
  Tsumura Miyuki
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Orthopaedic surgery
- 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 target
- 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
Analysis of bone remodeling using iPS cells derived from the patients with phagocyte signal transduction defectsPrincipal Investigator
- Principal Investigator
  
  TSUMURA Miyuki
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Immunology
- 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

[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
- Publisher
  科学評論社
- Data Source
  KAKENHI-PROJECT-15K21189
[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
[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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Human gain-of-function STAT1 mutation disturbs IL-18 immunity in mice2020
- Author(s)
  Tamaura M, Satoh-Takayama N, Tsumura M, Sasaki T, Goda S, Kageyama T, Hayakawa S, Kimura S, Asano T, Nakayama M, Koseki H, Ohara O, Okada S, Ohno H, Kobayashi M
- Journal Title
  
  International Immunology
  
  Volume: 32 Pages: 259-272
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07847
[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 neutrophils.2020
- Author(s)
  akamura-Utsunomiya A, Tsumura M, Okada S, Kawaguchi H, Kobayashi M
- Journal Title
  
  PLoS one
  
  Volume: in press
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07847
[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] 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] 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] 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] 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] 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] 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] Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.2016
- 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
  
  Journal of Allergy and Clinical Immunology
  
  Volume: 137 Pages: 619-622
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K21189
[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] Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation2016
- Author(s)
  Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 119 Issue: 4 Pages: 322-328
- DOI
  10.1016/j.ymgme.2016.10.007
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461526, KAKENHI-PROJECT-15K21189
[Journal Article] Significance of ACADM mutations identified from newborn screening of MCAD deficiency in Japan2016
- Author(s)
  Keiichi Hara, Go Tajima, Satoshi Okada, Miyuki Tsumura, Reiko Kagawa, Kenichiro Shirao, Yoshinori Ohno, Shin'ichiro Yasunaga, Motoaki Ohtsubo, Ikue Hata, Nobuo Sakura, Yosuke Shigematsu, Yoshihiro Takihara, Masao Kobayashi
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 118 Issue: 1 Pages: 9-14
- DOI
  10.1016/j.ymgme.2015.12.011
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461526, KAKENHI-PROJECT-26501004, KAKENHI-PROJECT-15K21189
[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] 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] 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] Naïve and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.2013
- Author(s)
  Deenick EK, Avery DT, Chan A, Berglud LJ, Ives ML, Bustamante J, Boisson-Dupuis S, Tsumura M, Kobayashi M, Arkwright PD, Averbuch D, Engelhard D, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Klein C, Holland SM, Uzel G, Casanova JL, Ma CS, Tangye SG
- Journal Title
  
  Journal of Experimental Medicine
  
  Volume: 210 Issue: 12 Pages: 2739-2753
- DOI
  10.1084/jem.20130323
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25870468
[Journal Article] Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.2013
- Author(s)
  Ives ML, Ma CS, Palendira U,Chan A, Bustamante J, Boisson-Dupuis S, Arkwright PD, Engelhard D, Averbuch D, Magdorf K, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, Frnch MA, Fulcher DA, Cook MC, Picard C, Durandy A, Tsumura M, Kobayashi M, Uzel G, Casanova JL, Tangye SG, Deenick EK
- Journal Title
  
  Journal of Allergy and Clinical Immunology
  
  Volume: 132 Issue: 2 Pages: 400-411
- DOI
  10.1016/j.jaci.2013.05.029
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25870468
[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
[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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Successful Bone Marrow Transplantation Using an Immunomyelosuppressive Conditioning in Patients with Severe Congenital Neutropenia: The Results of a Single-Institute.2019
- Author(s)
  Risa Matsumura, Shiho Nishimura, Yoko Mizoguchi, Mizuka Miki, Maki Taniguchi,Maiko Shimomura, Shuhei Karakawa, Shinji Mochizuki, Takehiko Doi,Hiroshi Kawaguchi, and Masao Kobayashi
- Organizer
  The 61st Annual Meeting and Exposition of American Society of Hematology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07847
[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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Enhanced osteoclastogenesis is caused by the abnormal IFN-STAT1 signaling in MSMD patients2015
- Author(s)
  Miyuki Tsumura, Osamu Hirata, Reiko Kagawa, Yoko Mizoguchi, Satoshi Okada, Masao Kobayashi.
- Organizer
  第77回日本血液学会学術集会
- Place of Presentation
  石川県立音楽堂、ANAクラウンプラザホテル、ホテル日航金沢、ホテル金沢、金沢市アートホテル、もてなしドーム（石川県金沢市）
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-PROJECT-15K21189
[Presentation] Osteoclastogenesis is significantly enhanced in patients with MSMD through the impaired of IFN-γ-STAT1 signaling2015
- Author(s)
  Miyuki Tsumura, Satoshi Okada, Masao Kobayashi.
- Organizer
  第44回日本免疫学会学術集会
- Place of Presentation
  札幌コンベンションセンター（北海道札幌市白石区）
- Year and Date
  2015-11-18
- Data Source
  KAKENHI-PROJECT-15K21189
[Presentation] 本邦３家系のSTAT1異常症における臨床症状と機能解析2014
- Author(s)
  津村弥来, 平田修, 香川礼子, 岡田賢, 小林正夫
- Organizer
  日本血液学会
- Place of Presentation
  大阪国際会議場（大阪府大阪市北区）
- Year and Date
  2014-10-31
- Data Source
  KAKENHI-PROJECT-25870468
[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] 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] Excessive Nitric Oxide production of CGD neutrophils induces the down-regulation of NOS3 and EDN1 expression in human endothelial cells.
- Author(s)
  Akari N. Utsunomiya, Miyuki Tsumura, Norioki Ohno, Mizuka Miki, Hiroshi Kawaguchi, Kazuhiro Nakamura and Masao Kobayashi
- Organizer
  The 56th American Society of Hematology Annual Meeting and Exposition
- Place of Presentation
  San Francisco, CA, USA
- Year and Date
  2014-12-06 – 2014-12-09
- Data Source
  KAKENHI-PROJECT-25293231

1. OKADA Satoshi (80457241)

# of Collaborated Projects: 11 results

# of Collaborated Products: 68 results
2. OHARA Osamu (20370926)

# of Collaborated Projects: 5 results

# of Collaborated Products: 5 results
3. Kobayashi Masao (00162016)

# of Collaborated Projects: 2 results

# of Collaborated Products: 10 results
4. Yamamoto Takashi (90244102)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. 溝口洋子 (30750533)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
6. ASANO takaki

# of Collaborated Projects: 2 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
8. Nakamura Kazuhiro (70363059)

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. KAGAWA Reiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
12. UTSUNOMIYA Akari

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
13. NISHIMURA shiho

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
14. SAITO satoshi

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. SAKATA sonoko

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
16. HAYAKAWA SEIICHI

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. YAMADA Kenji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. IMAI Kohsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
19. HARA Keiichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
20. 森尾友宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 玉浦萌

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 濱崎純

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Tsumura Miyuki 津村 弥来

TSUMURA Miyuki 津村 弥来

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Elucidation of the molecular pathogenesis of autosomal dominant ReAl deficiencyPrincipal Investigator

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Characterization of the mechanism of combined immunodeficiency due to ubiquitin modification abnormalitiesPrincipal Investigator

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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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Augmentation of osteoclast formation and its function in patients with IFN-g signaling abnormalityPrincipal Investigator

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Analysis of bone remodeling using iPS cells derived from the patients with phagocyte signal transduction defectsPrincipal Investigator

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Tsumura Miyuki 津村弥来

TSUMURA Miyuki 津村弥来