Schäffer Alejandro A, Salzer Ulrich, Hammarström Lennart, Grimbacher Bodo
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Department of Heath and Human Services, 8600 Rockvile Pike, Bethesda, MD 20894, USA.
Curr Opin Genet Dev. 2007 Jun;17(3):201-12. doi: 10.1016/j.gde.2007.04.002. Epub 2007 Apr 27.
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Patients have recurrent bacterial infections and an increased risk of developing autoimmune diseases, lung damage, and selected cancers. Since 2003, four genes have been shown to be mutated in CVID patients: ICOS, TNFRSF13B (encoding TACI), TNFRSF13C (encoding BAFF-R) and CD19. Heterozygous mutations in TNFRSF13B are also associated with CVID, whereas the other three genes are purely recessive. Recent genetic linkage studies have also identified possible loci for dominant CVID genes on chromosomes 4q, 5p and 16q. These findings markedly improved the genetic diagnosis of CVID and point towards new strategies for future genetic studies. In addition, some CVID genes might be relevant to more common diseases such as asthma and stroke.
常见变异型免疫缺陷（CVID）是最常见的有症状的原发性免疫缺陷。患者会反复发生细菌感染，患自身免疫性疾病、肺部损伤和特定癌症的风险增加。自2003年以来，已发现四个基因在CVID患者中发生突变：ICOS、TNFRSF13B（编码TACI）、TNFRSF13C（编码BAFF-R）和CD19。TNFRSF13B中的杂合突变也与CVID相关，而其他三个基因则完全是隐性的。最近的基因连锁研究还确定了4号染色体、5号染色体短臂和16号染色体上显性CVID基因的可能位点。这些发现显著改善了CVID的基因诊断，并为未来的基因研究指明了新策略。此外，一些CVID基因可能与哮喘和中风等更常见的疾病有关。
