Exome analysis identifed a molecular origin of primary immunodeficiency
| Project/Area Number |
16H05356
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | The University of Tokushima |
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Principal Investigator |
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2018: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2016: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
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| Keywords | 免疫不全症 / アレルギー / 原発性免疫不全症候群 / エクソーム解析 / 原発性免疫不全症 / 高IgE症候群 / 全エクソンシークエンス |
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| Outline of Final Research Achievements |
Human primary immunodeficiency is characterized by immunodeficiency, allergy, and cancer, which is caused by a mutation in a gene expressed in immune systems. We identified hyper-IgE syndrome is caused by dominant negative mutations of the STAT3 gene. We still do not know the molecular origins of 30 percent of hyper-IgE syndrome patients. To identify a novel molecular origin of hyper-IgE syndrome, we performed exome analysis of 100 hyper-IgE patients without mutations in the known molecular origins of hyper-IgE syndrome. We extensively performed in silico, in vitro, and in vivo analysis and identified novel causing gene of hyper-IgE syndrome.
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| Academic Significance and Societal Importance of the Research Achievements |
高IgE症候群は、単一遺伝子の異常により黄色ブドウ球菌感染症、骨粗鬆症、アトピー性皮膚炎、高IgE血症などの臨床的に重要で頻度の高い疾患を呈する。そのため、高IgE症候群の新規原因遺伝子の同定は、高IgE症候群の早期診断、予後の予測、治療法選択に貢献するだけでなく、黄色ブドウ球菌感染症、骨粗鬆症・アトピー性皮膚炎などの一般的な疾患の新規診断法、治療法・予防法の発見に結び付く可能性があるため、高IgE症候群新規原因遺伝子の発見は、学術的意義・社会的意義共に大きい。
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Report
(4 results)
Research Products
(11 results)
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[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.
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Journal Title
J Exp Med.
Volume: 213
Issue: 8
Pages: 1589-608
DOI
NAID
Related Report
Peer Reviewed / Int'l Joint Research
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