Berrón-Ruiz Laura
Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias. Ciudad de México, México.
Rev Alerg Mex. 2017 Jan-Mar;64(1):87-108. doi: 10.29262/ram.v64i1.227.
Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections. Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestations. In recent years, significant progress has been made in elucidating the genetic mechanisms that result in a IDCV phenotype. Massive sequencing technologies have favored the description of mutations in several genes, but only in 2 % to 10 % of patients. These monogenetic defects are: ICOS, TNFRSF13B (TACI), TNFRS13C (BAFFR), TNRFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), (CD27), LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R, VAV1, RAC1, BLK, IKZF1 (IKAROS) and IRF2BP2. These findings have provided a possible explanation for the pathogenesis of IDCV, since these molecules play an important role in the co-operation between B and T cells in the germinal center, as well as in intrinsic signaling pathways of both.
普通可变免疫缺陷（CVID）是有症状的原发性免疫缺陷中最大的一组；其特征为低丙种球蛋白血症、对疫苗反应不佳以及对感染的易感性增加。在适应性和先天性免疫反应中均已描述了细胞表型和异常情况。普通可变免疫缺陷的几种分类基于在T细胞和B细胞上发现的缺陷，这些缺陷与临床表现相关。近年来，在阐明导致CVID表型的遗传机制方面取得了重大进展。大规模测序技术有助于描述多个基因中的突变，但仅在2%至10%的患者中发现。这些单基因缺陷包括：ICOS、TNFRSF13B（TACI）、TNFRS13C（BAFFR）、TNRFSF12（TWEAK）、CD19、CD81、CR2（CD21）、MS4A1（CD20）、（CD27）、LRBA、CTLA4、PRKCD、PLCG2、NFKB1、NFKB2、PIK3CD、PIK3R、VAV1、RAC1、BLK、IKZF1（IKAROS）和IRF2BP2。这些发现为CVID的发病机制提供了一种可能的解释，因为这些分子在生发中心B细胞和T细胞之间的协作以及两者的内在信号通路中都起着重要作用。
