Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Curr Opin Allergy Clin Immunol. 2019 Dec;19(6):578-585. doi: 10.1097/ACI.0000000000000590.
The landscape of common variable immunodeficiency disorder (CVID) is rapidly evolving as the availability of next-generation sequencing leads to the discovery of new monogenic causes with the clinical phenotype of CVID. Herein, the biology of cytotoxic T lymphocyte-associated protein four (CTLA-4), differentially expressed in FDCP6 homolog (DEF6), and lipopolysaccharide responsive beige-like anchor protein (LRBA), and their impact on the development of a dysregulated, rather than an isolated, infectious phenotype of CVID are explored.
The broad clinical phenotype associated with these monogenic forms of CVID is described, and common approaches to treatment are reviewed.
Knowledge of the biology, clinical manifestations, and treatment options trialed thus far in patients with CTLA-4 insufficiency, DEF6 deficiency, and LRBA deficiency are essential in the consideration and effective management of patients with CVID stemming from these monogenic causes.
综述目的：随着下一代测序技术的应用，越来越多的 CVID 单基因疾病被发现，这些疾病具有 CVID 的临床表型，CVID 的疾病谱正在迅速变化。本文探讨了细胞毒性 T 淋巴细胞相关蛋白 4（CTLA-4）、差异表达在 FDCP6 同源物（DEF6）和脂多糖反应 beige 样锚蛋白（LRBA）的生物学特性及其对 CVID 免疫失调表型而不是孤立性感染表型发展的影响。
最近发现：描述了这些 CVID 单基因形式的广泛临床表型，并回顾了常见的治疗方法。
总结：了解 CTLA-4 功能不全、DEF6 缺乏和 LRBA 缺乏患者的生物学特性、临床表现和迄今为止试用的治疗选择，对于考虑和有效管理这些单基因病因引起的 CVID 患者至关重要。
