Common variable immunodeficiency (CVID) is established as a heterogeneous collection of disorders of immune dysregulation rather than an infectious complication of antibody deficiency. Approximately 70% of patients have one or more of the non-infectious complications of autoimmunity, enteropathy, polyclonal lymphocytic and malignancy. The CVID-disorders represent a particular challenge as they fall under an umbrella diagnosis governed currently by non-universal diagnostic criteria. The rubric of CVID is shrinking as next generation sequencing is progressively and rapidly identifying the genetic basis for many of its disorders. Although identification of monogenic cause of CVID allows for naming of separate or specific entities, it still provides valuable insight into the immune dysregulation of these disorders along with recognition of a polygenic basis of disease and cellular changes observed in innate and adaptive immune pathways. Cellular abnormalities in the T-cell (reduced regulatory T cells (Tregs) and increased T follicular helper cells), and B-cell compartments (reduced switched memory B-cells and increased peripheral CD21^low cells) along with an increase in innate lymphoid cells type 3 promote a milieu for inflammation. Immune dysregulation also results from increased microbial translocation from impaired gastrointestinal barrier function in CVID-patients with loss of Tregs. An understanding of the manifestations and mechanisms of immune dysregulation allows for improved vigilance in screening for the diagnosis, monitoring for complications of disease and the continued development and introduction of targeted therapies for non-infectious phenotypes.

常见变异免疫缺陷 (CVID) 被确定为免疫失调疾病的异质集合，而不是抗体缺陷的感染性并发症。大约 70% 的患者有一种或多种自身免疫性、肠病、多克隆淋巴细胞和恶性肿瘤的非感染性并发症。CVID 疾病代表了一个特殊的挑战，因为它们属于当前由非通用诊断标准管辖的总括诊断。CVID 的范围正在缩小，因为下一代测序正在逐步且快速地确定其许多疾病的遗传基础。尽管识别 CVID 的单基因原因允许命名单独的或特​​定的实体，它仍然提供了对这些疾病的免疫失调以及在先天性和适应性免疫途径中观察到的疾病和细胞变化的多基因基础的识别的宝贵见解。T 细胞（调节性 T 细胞 (Tregs) 减少和 T 滤泡辅助细胞增加）和 B 细胞区室（转换记忆 B 细胞减少和外周 CD21 增加）中的细胞异常^低细胞）以及 3 型先天淋巴细胞的增加促进了炎症的环境。免疫失调也是由于 Treg 缺失的 CVID 患者胃肠道屏障功能受损导致微生物易位增加所致。了解免疫失调的表现和机制有助于提高筛查诊断、监测疾病并发症以及持续开发和引入针对非感染性表型的靶向治疗的警惕性。