常见变异型免疫缺陷综合征中IgV基因体细胞超突变的缺陷。
Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.
作者信息
Levy Y, Gupta N, Le Deist F, Garcia C, Fischer A, Weill J C, Reynaud C A
机构信息
Unité d'immunologie clinique, Hôpital Henri Mondor, 51, avenue du Maréchal de Lattre de Tassigny, 94010 Créteil Cedex 10, France.
出版信息
Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13135-40. doi: 10.1073/pnas.95.22.13135.
Abstract
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.
摘要
常见变异型免疫缺陷（CVID）是最常见的有症状的原发性抗体缺陷综合征，但该综合征潜在的基本免疫缺陷尚未明确界定。我们在此报告，在所研究的8名患者（6名CVID患者和2名反复感染的低丙种球蛋白血症患者）中，2名CVID患者的Ig V基因体细胞超突变显著减少，循环记忆B细胞区室中40 - 75%的IgG转录本完全没有突变。对T细胞区室的功能分析表明，在这两例病例中，抗体亲和力成熟过程存在内在的B细胞缺陷。
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