2010 Fiscal Year Final Research Report
Research of clinical significance and molecular mechanisms of somatic revertant mosaicism in primary immunodeficiency.
| Project/Area Number |
20591247
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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 |
WADA Taizo Kanazawa University, 附属病院, 講師 (30313646)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 免疫学 / 遺伝子 / 原発性免疫不全症 / 復帰変異 / 体細胞モザイク |
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| Research Abstract |
Somatic revertant mosaicism has been described in an increasing number of primary immunodeficiency. Revertant cells with a selective advantage in vivo have been associated with attenuated clinical phenotype in some cases. In this research, we report an atypical case of X-linked severe combined immunodeficiency presenting with Omenn syndrome-like syndrome due to revertant mosaicism. We show the underlying mechanism and the importance of revertant mosaicism as a possible cause for variable phenotypic expression. The study of this fascinating phenomenon also continues to provide unique opportunities to evaluate the biological effects of restored gene expression and deserves close investigation.
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[Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients.2011
Author(s)
Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothirihiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A.
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Journal Title
Clin Immuuents. 138
Pages: 172-177
Peer Reviewed
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[Journal Article] Clinical significance of CD5 downregulation in Epstein-Barr virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis.2010
Author(s)
Toga A, Wada T, Sakakibara Y, Mase S, Araki R, Tone Y, Toma T, Kurokawa T, Yanagisawa R, Tamura K, Nishida N, Taneichi H, Kanegane H, Yachie A.
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Journal Title
J Infect Dis. 201
Pages: 1923-1932
Peer Reviewed
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[Journal Article] Flow cytometric analysis of skin blister fluid induced by mosquito bites in a patient with chronic active Epstein-Barr virus infection.2009
Author(s)
Wada T, Yokoyama T, Nakagawa H, Asai E, Toga A, Sakakibara Y, Shibata F, Tone Y, Shimizu M, Toma T, Yachie A.
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Journal Title
Int J Hematol. 90
Pages: 611-615
Peer Reviewed
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[Journal Article] Analysis of T-cell receptor V β diversity in peripheral CD4+ and CD8+ T lymphocytes in patients with autoimmune thyroid diseases.2009
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
Peer Reviewed
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[Journal Article] Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.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
Peer Reviewed
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[Presentation] Intermittent X-linked thrombocytopeniaの1例2011
Author(s)
和田泰三, 榊原康久, 東馬智子, 新井田要, 谷内江昭宏, 平松正行, 堀澤徹, 岡田直樹, 伊藤順庸, 中村常之, 犀川太
Organizer
第4回日本日本免疫不全研究会
Place of Presentation
九州大学医学部百年講堂,福岡県
Year and Date
2011-01-22
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[Presentation] Increased subpopulation of CD8+ T cells with CD5 down-regulation in familial hemophagocytic lymphohistiocytosis type 2.2010
Author(s)
Wada T, Sakakibara Y, Shimizu M, Nishimura R, Toma T, Ueno Y, Horita S, Yasumi T, Ohara O, Yachie A
Organizer
XIVth Meeting of the European Society for Immunodeficiencies
Place of Presentation
Istanbul Lutfi Kirdar Convention Center,トルコ
Year and Date
20101006-20101009
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[Presentation] Analysis of mutations and recombination activity in patients with RAG1/2 deficiency.2010
Author(s)
Asai E, Wada T, Sakakibara Y, Toma T,Shimizu T, Imai K, Nonoyama S, Morio T, Kamachi Y, Ohara O, Yachie A
Organizer
XIVth Meeting of the European Society for Immunodeficiencies
Place of Presentation
Istanbul Lutfi Kirdar Convention Center,トルコ
Year and Date
20101006-20101009
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[Presentation] Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.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
Organizer
XIIIth Meeting of the European Society for Immunodeficiencies
Place of Presentation
Theater aan de Parade,オランダ
Year and Date
20081016-20081019
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