PDF(Pubmed)
Abstract：
Here we describe a novel mutation in the IKZF gene encoding IKAROS, as the cause of common variable immunodeficiency (CVID). The identification of the same defect in the IKZF gene with manifestations of asymptomatic selective IgA deficiency and chronic ITP in the father and her younger brother, respectively, demonstrates the large variability of this genetic defect in one single family, while living in the same environment with a relatively similar genetic background. As discussed, clinical penetrance of the molecular defects identified by mutations in IKZF and other common gene defects in CVID in familial immune-related abnormalities makes genetic testing a necessary step for diagnosis, management, and counseling, as part of the routine immunological workup.
摘要：
在这里，我们描述了编码IKAROS的IKZF基因中的一种新突变，作为常见可变免疫缺陷（CVID）的原因。在父亲和她的弟弟的无症状选择性IgA缺乏和慢性ITP表现的IKZF基因的相同缺陷的鉴定，分别,证明了这种遗传缺陷在一个单一家庭中的巨大变异性，同时生活在具有相对相似的遗传背景的相同环境中。正如所讨论的，在家族性免疫相关异常中，由IKZF中的突变和CVID中的其他常见基因缺陷鉴定的分子缺陷的临床外显率使得基因检测成为诊断的必要步骤，管理,和咨询，作为常规免疫检查的一部分。
