期刊
AUTOIMMUNITY
卷 46, 期 2, 页码 148-156出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/08916934.2012.750299
关键词
Primary immunodeficiency; class switch recombination-deficiency; tolerance
类别
资金
- Institut National de la Sante et de la Recherche Medicale
- European Union [201549, 232809]
- Association Contre Le Cancer
- ANR Blanc CSRD
- NIH-NIAID [AI061093, AI071087, AI082713, AI095848]
- Netherlands Organization for Scientific Research (NWO)
Autoimmune manifestations are paradoxical and frequent complications of primary immunodeficiencies, including T and/or B cell defects. Among pure B cell defects, the Activation-induced cytidine Deaminase (AID)-deficiency, characterized by a complete lack of immunoglobulin class switch recombination and somatic hypermutation, is especially complicated by autoimmune disorders. We summarized in this review the different autoimmune and inflammatory manifestations present in 13 patients out of a cohort of 45 patients. Moreover, we also review the impact of AID mutations on B-cell tolerance and discuss hypotheses that may explain why central and peripheral B-cell tolerance was abnormal in the absence of functional AID. Hence, AID plays an essential role in controlling autoreactive B cells in humans and prevents the development of autoimmune syndromes.
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