Rae William
Department of Immunology, MP8, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, Hampshire, SO16 6YD, UK.
Arch Immunol Ther Exp (Warsz). 2017 Apr;65(2):101-110. doi: 10.1007/s00005-016-0414-x. Epub 2016 Aug 2.
Primary immunodeficiencies (PIDs) are a group of rare genetic diseases resulting in the impairment of one or more functions of the human immune system. Common variable immunodeficiency (CVID) is one of the most prevalent PIDs, yet despite extensive genetic analysis, most patients do not have a monogenetic diagnosis. This has led to the theory that CVID must be a polygenetic condition. An alternative theory to a monogenetic or polygenetic underlying cause of CVID is that it is epigenetic phenomena that are causal in the majority of CVID patients. I will briefly discuss epigenetic regulation in B-cell biology and development, current examples of epigenetic diseases causing CVID-like primary antibody deficiencies, and how these observations may guide future investigation into the role of epigenetics in CVID.
原发性免疫缺陷病（PIDs）是一组罕见的遗传性疾病，会导致人体免疫系统的一种或多种功能受损。常见变异型免疫缺陷病（CVID）是最常见的原发性免疫缺陷病之一，然而，尽管进行了广泛的基因分析，大多数患者仍未得到单基因诊断。这导致了一种理论，即CVID必定是一种多基因疾病。对于CVID潜在的单基因或多基因病因，另一种理论认为，表观遗传现象在大多数CVID患者中起因果作用。我将简要讨论B细胞生物学和发育中的表观遗传调控、导致类似CVID的原发性抗体缺陷的表观遗传疾病的当前实例，以及这些观察结果如何指导未来对表观遗传学在CVID中的作用的研究。
