Analysis of pathogenesis of common variable immunodeficiency

2016 Fiscal Year Final Research Report

• Project/Area Number: 15H06186
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Tokyo Medical and Dental University
• 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)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Keywords: 原発性免疫不全症 / 分類不能型免疫不全症

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.

Free Research Field

小児科学