Servicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
J Clin Immunol. 2012 Feb;32(1):89-97. doi: 10.1007/s10875-011-9613-8. Epub 2011 Nov 11.
Common variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by impaired immunoglobulin production. Mutations in the gene encoding TACI (TNFRSF13B) were previously found to be associated with CVID. Previous studies have identified a variety of sequence variants in TACI where A181E and C104R were the most common, with variable frequencies in different ethnic populations. So far, no mutations were identified in the recently reported "TACI highly conserved" (THC) cytoplasmic domain, important for the induction of class switch recombination. Our study evaluated immunological and clinical data on a cohort of 28 Argentinean pediatric CVID patients and allowed the identification of two novel mutations in TNFRSF13B, including one, S231R, affecting the highly conserved THC domain. In contrast, none of the patients presented with A181E and C104R mutations.
普通变异性免疫缺陷症（CVID）是一种以免疫球蛋白产生受损为特征的异质性综合征。先前发现编码 TACI（TNFRSF13B）的基因突变与 CVID 相关。先前的研究已经在 TACI 中鉴定出多种序列变体，其中 A181E 和 C104R 最为常见，在不同种族群体中的频率不同。到目前为止，在最近报道的“TACI 高度保守”（THC）细胞质域中尚未发现突变，该区域对于诱导类别转换重组很重要。我们的研究评估了 28 名阿根廷儿科 CVID 患者队列的免疫学和临床数据，并在 TNFRSF13B 中鉴定出了两种新的突变，包括影响高度保守的 THC 结构域的 S231R 突变。相比之下，没有患者出现 A181E 和 C104R 突变。
