Molecular mechanisms underlying the complex clinical features of combined immunodeficiency disorders
| Project/Area Number |
19591244
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kanazawa University |
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Principal Investigator |
YACHIE Akihiro Kanazawa University, 医学系, 教授 (40210281)
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| Project Period (FY) |
2007 – 2008
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| Project Status |
Completed (Fiscal Year 2008)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2008: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2007: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | Omenn症候群 / 重症複合免疫不全症 / 第二変異 / T細胞抗原受容体解析 / 免疫寛容機構 |
|---|
| Research Abstract |
X-SCIDは通常、T細胞ならびにNK細胞を欠損し、複合免疫不全症の病態を示すが、本研究ではOmenn症候群様の異常T細胞増殖と重症皮膚病変を示した症例の病態を解析した。その結果、皮膚に浸潤するT細胞には共通γ鎖遺伝子に第二変異が起こっていることが確認された。これまでの研究でも、第二変異あるいは遺伝子変異の復帰により増殖したクローンが病態を修飾している症例を経験しており、本症例はこれまでの一連の研究と関連し、わずかなクローンに生じた新たな変異が臨床症状に多大な影響を及ぼすという、原発性免疫不全症ならではの現象を確認することとなった。
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Report
(3 results)
Research Products
(39 results)
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[Journal Article] Analysis of T cell receptor Vb diversity in peripheral CD4^+ and CD8^+ T lymphocytes in patients with autoimmune thyroid diseases2008
Author(s)
Okajima M, Wada T, Nishida M, Yokoyama T, Nakayama Y, Hashida Y, Shibata F, Tone Y, Ishizaki A, Shimizu M, Saito T, Ohta K, Toma T, Yachie A.
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Journal Title
Clin Exp Immunol 155
Pages: 166-172
Related Report
Peer Reviewed
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[Journal Article]2008
Author(s)
Wada T, Yasui M, Toma T, Nakayama Y,Nishida M, Shimizu M, Okajima M, Kasahara Y, Koizumi S, Inoue M, Kawa K, Yachie A
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Journal Title
Blood 112
Pages: 1872-1875
Related Report
Peer Reviewed
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[Journal Article] Clonotypic analysis of T cell reconstitution after haematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency2007
Author(s)
Okamoto H, Arii C, Shibata F, Toma T, Wada T, Inoue M, Tone Y, Kasahara Y, Koizumi S, Kamachi Y, Ishida Y, Inagaki J, Kato M, Morio T, Yachie A.
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Journal Title
Clin Exp Immunol 148
Pages: 45-460
Related Report
Peer Reviewed
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[Journal Article] Skin infiltration of CD56^<bright> CD16^- natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations2007
Author(s)
Shibata F, Toma T, Wada T, Inoue M, Tone Y, Ohta K, Kasahara Y, Sano F, Kimura M, Ikeno M, Koizumi S, Yachie A.
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Journal Title
Eur J Haematol 79
Pages: 81-85
Related Report
Peer Reviewed
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[Presentation] 種痘様水泡症で気付かれた慢性活動性EBウイルス感染症(CAEBV)の4歳女児例2008
Author(s)
栂暁子, 馬瀬新太郎, 刀祢裕美, 清水正樹, 和田泰三, 東馬智子, 犀川太, 笠原善仁, 谷内江昭宏, 小泉品一, 長谷川稔, 全陽, 中田聡子
Organizer
第293回日本小児科学会北陸地方会
Place of Presentation
福井県吉田郡
Year and Date
2008-06-08
Related Report
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[Presentation] Multiple reversion mosaicism of common gamma chain(γc)mutation causing X-linked severe combined immunodeficiency restored enough T-cell repertoires to mount anti-varicella immunity. (Kawai T, Saitoh M, Nishikomari R : Pediatrics, Graduate School of Medicin, Kyoto University, Kyoto Japan), (Okafuji I : Kobe City Medical Center General Hospital, Kobe, Japan), (Sakai H, Murata Y, Tanaka N, Tanaka T, Ohmori K), (Murakami T : Pediatrics, Nara City Hospital, Nara, Japan), (Mori y : Laboratory of Virology and Vaccinology, National Institute of Biomedical innovation, Ibaraki, Japan), (Imai K : Pediatrics, National Defense Medical College Hospital, Tokorozawa, Japan)2008
Author(s)
Wada T, Yachie A, Heike T, Nakahara T
Organizer
13th Meeting of the European Society for Immunodeficiencies(ESID)
Place of Presentation
's-Hertogenbosch The Netherlands
Related Report
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[Presentation] Detection of revertant T lymphocytes in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Wada T, (Yasui M : Osaka Medical Center and Research Institute for Maternal and Child Health, Department of Hematology/Oncology, Osaka Japan)2008
Author(s)
Toma T, Nakayama Y, Nishida M, Shimizu M, Okajima M, Kasahara Y, Koizumi S, Inoue M, Kawa K
Organizer
13th Meeting of the European Society for Immunodeficiencies(ESID)
Place of Presentation
's-Hertogenbosch The Netherlands
Related Report
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