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Establishment of genetic diagnosis system and identification of molecular origin for primary immunodeficiencies

Research Project

Project/Area Number 19390282
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTokyo Medical and Dental University

Principal Investigator

MINEGISHI Yoshiyuki  Tokyo Medical and Dental University, 大学院・医歯学総合研究科, 准教授 (10343154)

Co-Investigator(Kenkyū-buntansha) 烏山 一  東京医科歯科大学, 医歯学総合研究科, 教授 (60195013)
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000)
Fiscal Year 2008: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2007: ¥9,880,000 (Direct Cost: ¥7,600,000、Indirect Cost: ¥2,280,000)
Keywords免疫不全症 / サイトカイン / シグナル伝達 / アレルギー / 黄色ブドウ球菌 / 遺伝子診断 / 高IgE症候群 / STAT3 / TYK2 / Th17細胞 / アトピー性皮膚炎 / IgE / Tyk2
Research Abstract

高IgE症候群は、難治性のアトピー性皮膚炎、高IgE血症、細菌に対する易感染性を3主徴とする免疫不全症である。その原因遺伝子は、細菌まで明らかにとれていなかったが、2006年我々が単純ヘルペスウイルス感染症と細胞内寄生細菌感染症を合併する高IgE症候群の1つの原因遺伝子TYK2を発見した。さににこの発見を契機として、TYK2欠損症で障害が見られたサイトカインジナル遺達を詳細に検討することにより、古典的高IgE症候群の原因遺伝子がSTAT3であるとを我々が世界に先駆けて発見した。以上の発見により高IgE症候群は、いくつかのサイトカインのシグナル伝達の異常が原因で発症する症候群である可能性が示唆された。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • Research Products

    (60 results)

All 2009 2008 2007 Other

All Journal Article (30 results) (of which Peer Reviewed: 14 results) Presentation (28 results) Remarks (2 results)

  • [Journal Article] The skewed heavy-chain repertoire in peritoneal B-1 cells is predetermined by the selection via pre-B cell receptor duting B cell ontogeny in the fetal liber2009

    • Author(s)
      Yoshikawa S, Kawano Y, Minegishi Y, Karasuyama H
    • Journal Title

      Int Immunol 21

      Pages: 43-52

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome : Lessons from a primary immunodeficiency2009

    • Author(s)
      Minegishi Y., Karasuyama H.
    • Journal Title

      Int.Immunol 21

      Pages: 105-112

    • NAID

      10025384109

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Molecular explanation for the comtradiction between systemic Th17 defect and localized bacterial infection in hyper-IfE syndrome2009

    • Author(s)
      Minegishi Y.,Saito M.,Nagasawa M.,Tskada H.,Kawamura N.,Ariga T.,Tsuge I.,Karasuyama H
    • Journal Title

      J.Exp.Med 206(in press)

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Basophils play a pivotal role in IgG-but not IgE-mediated systemic anaphylaxis in contrast to mast cells2008

    • Author(s)
      Tsujimura Y, Obata K, Mukai K, Shindou H, Yoshida M, NishikadolH, Kawano Y, Minegishi Y, Shimizu T Karasuyama H
    • Journal Title

      Immunity 28

      Pages: 581-589

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] ついに明らかにされた高IgE症候群の原因遺伝子2008

    • Author(s)
      峯岸克行
    • Journal Title

      医学のあゆみ 224

      Pages: 237-238

    • Related Report
      2008 Final Research Report
  • [Journal Article] アレルギー疾患関連遺伝子2008

    • Author(s)
      峯岸克行, 島山一
    • Journal Title

      感染・炎症・免疫 38

      Pages: 24-31

    • Related Report
      2008 Final Research Report
  • [Journal Article] ヒト先天性免疫不全症の原因と病態2008

    • Author(s)
      峯岸克行
    • Journal Title

      細胞工学 27

      Pages: 602-606

    • NAID

      40016077813

    • Related Report
      2008 Final Research Report
  • [Journal Article] 高IgE症候群の遺伝学2008

    • Author(s)
      峯岸克行
    • Journal Title

      アレルギー・免疫 15

      Pages: 62-67

    • Related Report
      2008 Final Research Report
  • [Journal Article] 重症アトピー性皮膚炎を合併する免疫不全症の原因遺伝子同定2008

    • Author(s)
      峯岸克行
    • Journal Title

      生体の科学 59

      Pages: 296-301

    • Related Report
      2008 Final Research Report
  • [Journal Article] 高IgEの遺伝学-ついに明らかにされたその原因遺伝子と病態2008

    • Author(s)
      峯岸克行
    • Journal Title

      小児科臨床 61

      Pages: 1799-1803

    • Related Report
      2008 Final Research Report
  • [Journal Article] 高IgE症候群2008

    • Author(s)
      齋岸克行・峯岸克行
    • Journal Title

      アレルギー・免疫 15

      Pages: 96-101

    • Related Report
      2008 Final Research Report
  • [Journal Article] BTK欠損を伴わない無ガンマグロブリン血症2008

    • Author(s)
      峯岸克行
    • Journal Title

      小児内科 40

      Pages: 1271-1274

    • Related Report
      2008 Final Research Report
  • [Journal Article] 高IgE症候群2008

    • Author(s)
      峯岸克行
    • Journal Title

      小児内科 40

      Pages: 1294-1296

    • Related Report
      2008 Final Research Report
  • [Journal Article] STAT3シグナルと免疫疾患2008

    • Author(s)
      峯岸克行, 島山一
    • Journal Title

      実験医学 26

      Pages: 2432-2436

    • Related Report
      2008 Final Research Report
  • [Journal Article] 単一遺伝子異常にとり発症するアレルギー2008

    • Author(s)
      峯岸克行, 島山一
    • Journal Title

      高IgE症候群小児科 49

      Pages: 1766-1774

    • Related Report
      2008 Final Research Report
  • [Journal Article] Genetic origins of hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y. Karasuyama H
    • Journal Title

      Cutt Allergy Asthnna Rep 8

      Pages: 386-391

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Basophils play a pivotal role in IgG- but not IgE-mediated systemic anaphylaxis in contrast to mast cells.2008

    • Author(s)
      Tsujimura Y, Obata K, Mukai K, Shindou H, Yoshida M, Nishikadol H, Kawano Y, Minegishi Y, Shimizu T, Karasuyama H
    • Journal Title

      Immunity 28

      Pages: 581-589

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic origins of hyper-IgE syndrome.2008

    • Author(s)
      Minegishi Y., Karasuyama H.
    • Journal Title

      Curr Allergy Asthma Rep 8

      Pages: 386-391

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome2007

    • Author(s)
      Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Arga T, Pasic S, Stojkovic O, Metin A, Karasuyma H
    • Journal Title

      Nature 448

      Pages: 1058-1062

    • Related Report
      2008 Final Research Report
  • [Journal Article] Basophils are essential initiators of a novel type of chronic allergic inflammation2007

    • Author(s)
      Obata K, Mukai K, Tsujimura Y, Ishiwata K, Kawano Y, Minegishi Y, Watanabe N, Karasuyama H
    • Journal Title

      Blood 110

      Pages: 913-920

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Response : The hyper IgE syndrome and mutations in TYK22007

    • Author(s)
      Minegishi Y, Saito M, Karasuyama H
    • Journal Title

      Immunity 26

      Pages: 536-536

    • Related Report
      2008 Final Research Report
  • [Journal Article] Mast Cells and Basophils Are Selectively Activated In Vitro and In Vivo through CD200R3 in an IgE-Independent Manner2007

    • Author(s)
      Kojima T, Obata K, Mukai K, Sato S, Takai T, Minegishi Y,and Karasuyama H
    • Journal Title

      J Immunol 179

      Pages: 7093-7100

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Hyper IgE syndrome and Tyk2 deficiency2007

    • Author(s)
      Minegishi Y. Karasuyama H.
    • Journal Title

      Current Opinion in Allergy Clinical Immunol 7

      Pages: 506-509

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] 高IgE症候群の原因遺伝子2007

    • Author(s)
      峯岸克行、島山一
    • Journal Title

      Annual Review 免疫

      Pages: 288-294

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Tyk2欠損と高IgE症候群2007

    • Author(s)
      峯岸克行
    • Journal Title

      臨床免疫・アレルギー科 48

      Pages: 547-552

    • NAID

      40015753878

    • Related Report
      2008 Final Research Report
  • [Journal Article] 重症アトピー伴う難病原因遺伝子をついに発見2007

    • Author(s)
      峯岸克行、島山一
    • Journal Title

      Medical Bio 4

      Pages: 14-15

    • Related Report
      2008 Final Research Report
  • [Journal Article] ことばのカルテ151先天性免疫不全2007

    • Author(s)
      峯岸克行
    • Journal Title

      Medical Tribune

    • Related Report
      2008 Final Research Report
  • [Journal Article] Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.2007

    • Author(s)
      Minegishi Y, Saito M, Karasuyama H., et. al.,
    • Journal Title

      Nature 448

      Pages: 1058-1062

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Basophils are essential initiators of a novel type of chronic allergic inflammation.2007

    • Author(s)
      Obata K, Minegishi Y, WKarasuyama H.
    • Journal Title

      Blood 110

      Pages: 913-920

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Hyper IgE syndrome and Tyk2 deficiency.2007

    • Author(s)
      Minegishi Y. Karasuyama H.
    • Journal Title

      Curr. Opin. Allergy Clin. Immunol. 7

      Pages: 506-509

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] 日本免疫学会第11回日本免疫学会受賞記念講演原発性免疫不全症の病因・病態の解明2008

    • Author(s)
      峯岸克行
    • Organizer
      第38回日本免疫学会総会
    • Place of Presentation
      京都
    • Year and Date
      2008-12-12
    • Related Report
      2008 Final Research Report
  • [Presentation] Molecular origin and pathogenesis of hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y., Saito M., Karasuyama H.
    • Organizer
      Symposium for PID in Asia at RIKEN Yokohama
    • Place of Presentation
      Institute
    • Year and Date
      2008-12-11
    • Related Report
      2008 Final Research Report
  • [Presentation] 原発性免疫不全症の病因・病態の解明2008

    • Author(s)
      峯岸克行
    • Organizer
      日本免疫学会 第11回日本免疫学会賞受賞記念講演
    • Place of Presentation
      京都
    • Year and Date
      2008-12-02
    • Related Report
      2008 Annual Research Report
  • [Presentation] STAT3 and cutaneous or lung hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y., Saito M., Karasuyama H.
    • Organizer
      Pierre Graber Lecture the Annual meeting of French Society for Immunology
    • Place of Presentation
      Paris
    • Year and Date
      2008-11-27
    • Related Report
      2008 Final Research Report
  • [Presentation] STAT3 and cutaneous or lung hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y.
    • Organizer
      Pierre Graber Lecture the Annual meeting of French Society for Immunology
    • Place of Presentation
      Paris, France
    • Year and Date
      2008-11-27
    • Related Report
      2008 Annual Research Report
  • [Presentation] 高IgE症候群の原因遺伝子と易感染性の発症メカニズム2008

    • Author(s)
      峯岸克行
    • Organizer
      第40回日本小児感染症学会総会・学術集会教育講演
    • Place of Presentation
      名古屋
    • Year and Date
      2008-11-15
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子と易感染性の発症メカニズム2008

    • Author(s)
      峯岸克行
    • Organizer
      第40回日本小児感染症学会総会・学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2008-11-15
    • Related Report
      2008 Annual Research Report
  • [Presentation] Signaling defect due to the mutations in TYK2 and STAT3 resulting in hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y.
    • Organizer
      European Society for Immunodeficiency
    • Place of Presentation
      's-Hertogenbosch, Netherlands
    • Year and Date
      2008-10-18
    • Related Report
      2008 Annual Research Report
  • [Presentation] Molecular origin and pathogenesis of hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y.
    • Organizer
      Symposium for Primary Immunodeficiency in Asia
    • Place of Presentation
      Yokohama, Japan
    • Year and Date
      2008-10-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] 高IgE症候群とTh17細胞2008

    • Author(s)
      峯岸克行
    • Organizer
      第10回福岡小児感染免疫・血液カンファレンス
    • Place of Presentation
      福岡
    • Year and Date
      2008-08-01
    • Related Report
      2008 Annual Research Report 2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子同定と2008

    • Author(s)
      峯岸克行
    • Organizer
      Th17細胞分化異常 第5回宮崎アレルギー疾患研究会
    • Place of Presentation
      宮崎
    • Year and Date
      2008-07-31
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子同定とTh17細胞分化異常2008

    • Author(s)
      峯岸克行
    • Organizer
      第5回宮崎アレルギー疾患研究会
    • Place of Presentation
      宮崎
    • Year and Date
      2008-07-31
    • Related Report
      2008 Annual Research Report
  • [Presentation] 高IgE症候群の原因遺伝子同定とTh17細胞分化異常2008

    • Author(s)
      峯岸克行
    • Organizer
      第4回金沢大学十全医学会
    • Place of Presentation
      金沢
    • Year and Date
      2008-07-26
    • Related Report
      2008 Annual Research Report 2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子2008

    • Author(s)
      峯岸克行
    • Organizer
      第111回小児科学会学術集会 教育講演
    • Place of Presentation
      東京
    • Year and Date
      2008-04-27
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子2008

    • Author(s)
      峯岸克行
    • Organizer
      第111回日本小児科学会学術集会 教育講演
    • Place of Presentation
      東京
    • Year and Date
      2008-04-27
    • Related Report
      2008 Annual Research Report
  • [Presentation] "Molecular origin and signaling defecg in hyper-IgE syndrome"Seminasr in Pediatric Immunology, Hematology, and Rheumatology at the Hospital Necker-Enfants Malades Paris2008

    • Author(s)
      Minegishi Y., Saito M.,Kaarasuyama H.
    • Place of Presentation
      France
    • Year and Date
      2008-04-10
    • Related Report
      2008 Final Research Report
  • [Presentation] Molecular origin and signaling defect in hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y.
    • Organizer
      Seminar in Pediatric Immunology, Hematology, and Rheumatology at the Hospital Necker-Enfants
    • Place of Presentation
      Paris, France
    • Year and Date
      2008-04-10
    • Related Report
      2008 Annual Research Report
  • [Presentation] Singnaling defects in hyper-IgE syndrome2008

    • Author(s)
      Minegishi Y., Saito M., Karasuyama H.
    • Organizer
      Keystone Symposium"Lymphocyte activation and signaling"
    • Place of Presentation
      Snowbird,Utah,USA,Feburary
    • Year and Date
      2008-03-08
    • Related Report
      2008 Final Research Report
  • [Presentation] 先天性免疫不全症の原因遺伝子2008

    • Author(s)
      峯岸克行
    • Organizer
      第9回川野小児医学賞 受賞記念講演
    • Place of Presentation
      川越
    • Year and Date
      2008-03-01
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子と病態解析2008

    • Author(s)
      峯岸克行
    • Organizer
      日本免疫不全研究会
    • Place of Presentation
      東京
    • Year and Date
      2008-01-19
    • Related Report
      2008 Final Research Report
  • [Presentation] "Signaling defect due to the mutations in TYK2 and STAT3 resulting in hyper-IgE syndrome",'s-Hertogenbosch,2008

    • Author(s)
      Minegishi Y.,Saito M .,Karasuyama H
    • Organizer
      European Society for Immunodeficiency
    • Place of Presentation
      Netherlands
    • Related Report
      2008 Final Research Report
  • [Presentation] Signaling defects in hyper-IgE syndrome.2008

    • Author(s)
      Minegishi Y
    • Organizer
      Keystone Symposium "Lymphocyte activation and signaling",
    • Place of Presentation
      Snowbird, Utah, USA
    • Related Report
      2007 Annual Research Report
  • [Presentation] Dominat negative mutations in the DNA-binding domain of STAT3causse hyper-IgE syndrome2007

    • Author(s)
      Minegishi Y
    • Organizer
      37^<th> annual meeting of Japanese Socity for Immunology
    • Place of Presentation
      Shinagawa
    • Year and Date
      2007-11-22
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子の検討2007

    • Author(s)
      峯岸克行、齋藤雅子、高田英俊、原寿郎、川村信明、有賀正、土屋滋、柘植郁哉、鳥山一
    • Organizer
      日本アレルギー学会秋季学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2007-11-02
    • Related Report
      2008 Final Research Report
  • [Presentation] 高IgE症候群の原因遺伝子2007

    • Author(s)
      峯岸克行、齋藤雅子、鳥山一
    • Organizer
      信州免疫アレルギー懇話会
    • Place of Presentation
      松本
    • Year and Date
      2007-10-05
    • Related Report
      2008 Final Research Report
  • [Presentation] Molecular genetics and funnctijonal characterization of human hypir-IgE2007

    • Author(s)
      Minegishi Y.
    • Organizer
      JSI-RCAI workshop 2007"Lessons learned fromprimary immunodeficienty"
    • Place of Presentation
      RCAI,Yokohama
    • Year and Date
      2007-05-25
    • Related Report
      2008 Final Research Report
  • [Presentation] Human Tyk2 deficiency revealals repuisite roles of Tyk2 in multiple cytokine signals involved in innate and acpuired immunity2007

    • Author(s)
      Minegishi Y., saito M., Nonoyama S. Karasuyama H.
    • Organizer
      Keystone Symposium"Jsks,STATs,and Immunitu"Steamboat springs
    • Place of Presentation
      Colorado, USA
    • Related Report
      2008 Final Research Report
  • [Presentation] Primasry Immunodeficiengy ; Identification and elucidation of complex primary immunodeficiency, hyper-IgE syndrome2007

    • Author(s)
      Minegishi. Y.
    • Organizer
      9^<th> FIMSA advanced immunology training course and workshop
    • Place of Presentation
      Jeju,Kores
    • Related Report
      2008 Final Research Report
  • [Remarks] 2007年8月6日、高IgE症候群の原因遺伝子同定のニュースが、NHKテレビ朝日、読売、毎日、日経、産経、東京などの各紙報道された。

    • Related Report
      2008 Final Research Report
  • [Remarks] 日本免疫学会主催のアウトリーチ活動、免疫ふしふ未来2008,2009において講師を務めた。

    • Related Report
      2008 Final Research Report

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Published: 2007-04-01   Modified: 2016-04-21  

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