Fifty years have elapsed since the term common variable immunodeficiency (CVID) was introduced to accommodate the many and varied antibody deficiencies being identified in patients with suspected inborn errors of immunity (IEIs). Since then, how the term is understood and applied for diagnosis and management has undergone many revisions, though controversy persists on how exactly to define and classify CVID. Many monogenic disorders have been added under its aegis, while investigations into polygenic, epigenetic, and somatic contributions to CVID susceptibility have gained momentum. Expansion of the overall IEI landscape has increasingly revealed genotypic and phenotypic overlap between CVID and various other immunological conditions, while increasingly routine genotyping of CVID patients continues to identify an incredible diversity of pathophysiological mechanisms affecting even single genes. Though many questions remain to be answered, the lessons we have already learned from CVID biology have greatly informed our understanding of adaptive, but also innate, immunity.

中文翻译：

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普通变异型免疫缺陷病：通往罗马的道路多于道路


自从引入常见变异型免疫缺陷病 （CVID） 一词以适应在疑似先天性免疫缺陷 （IEI） 患者中发现的多种抗体缺陷以来，已经过去了 50 年。从那时起，该术语如何被理解和应用于诊断和管理经历了许多修订，尽管关于如何准确定义和分类 CVID 的争议仍然存在。在其支持下增加了许多单基因疾病，而对多基因、表观遗传和体细胞对 CVID 易感性影响的研究势头强劲。整体 IEI 景观的扩展越来越多地揭示了 CVID 与各种其他免疫疾病之间的基因型和表型重叠，而 CVID 患者日益常规的基因分型继续发现影响甚至单个基因的病理生理机制的难以置信的多样性。尽管仍有许多问题有待回答，但我们已经从 CVID 生物学中吸取的经验教训极大地启发了我们对适应性免疫和先天免疫的理解。