文章基本信息

标题：Defect in IgV gene somatic hypermutation in Common Variable Immuno-Deficiency syndrome
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作者：Yves Levy ; Neetu Gupta ; Françoise Le Deist 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1998
卷号：95
期号：22
页码：13135-13140
DOI：10.1073/pnas.95.22.13135
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.