Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Germany.
Ann N Y Acad Sci. 2012 Feb;1250:41-9. doi: 10.1111/j.1749-6632.2011.06377.x. Epub 2012 Feb 2.
Common variable immunodeficiency (CVID) represents a large heterogeneous group of antibody deficiency syndromes associated with a plethora of clinical features and as yet largely undefined molecular causes. We are now seeing this heterogeneous group being increasingly defined into single-gene and polygenic disorders after stratification into homogeneous patient subgroups based on improved clinical and immunological criteria, including molecular, functional, immunohistological, and longitudinal and outcome information. In this perspective, we highlight recent developments in CVID, addressing mainly its genetic and immunological dimensions.
普通变异性免疫缺陷症(CVID)代表了一大组抗体缺陷综合征,与众多临床特征相关,但其分子病因在很大程度上仍未确定。我们现在看到,在根据改进的临床和免疫学标准(包括分子、功能、免疫组织化学以及纵向和结果信息)将同质患者亚组分层后,将这组异质患者分为单基因和多基因疾病后,该综合征的定义变得越来越明确。从这个角度来看,我们重点介绍 CVID 的最新进展,主要涉及它的遗传和免疫学方面。