| Project/Area Number |
15H06186
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
MITSUIKI Noriko 東京医科歯科大学, 大学院医歯学総合研究科, 助教 (30754915)
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| Project Period (FY) |
2015-08-28 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 原発性免疫不全症 / 分類不能型免疫不全症 / 抗体産生不全 / 免疫不全症 / 抗体産生不全症 |
|---|
| Outline of Final Research Achievements |
Common variable immunodeficiency (CVID) is a heterogeneous form of primary immunodeficiency and characterized by antibody deficiency. Although a small subset of CVID patients has identified a monogenic cause of disease, most of CVID patients have not identified the causes. The aim of research is to identify new genes which cause CVID and to clarify the pathogenesis of CVID. We analyzed the following case: 1) X-linked severe combined immunodeficiency with dysgammaglobulinemia, 2) NFkB2 deficiency, 3) hypogammaglobulinemia due to FANCA mutation. Moreover, we picked up some candidate genes from our whole exome data.
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