Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Germany.
Autoimmun Rev. 2010 May;9(7):477-82. doi: 10.1016/j.autrev.2010.02.005. Epub 2010 Feb 8.
A number of primary immunodeficiencies are associated with autoimmune phenomena, e.g. Wiskott-Aldrich Syndrome, Common Variable Immunodeficiency and Hyper-IgM Syndrome. The common denominator is a dysregulation of immune responses affecting T and B cells with central and/or peripheral tolerance mechanisms being disturbed. Autoimmunity and autoinflammation may also occur in atypical phenotypes of combined immunodeficiencies (CID) usually associated with severe infectious complications. These unexpected presentations of classical CID are very instructive in how low numbers of T and B cells go hand in hand with skewing of lymphoid repertoires and function. The resulting immune dysregulation may lead to self-reactivity with organ damage and malignancy.
许多原发性免疫缺陷与自身免疫现象有关，例如 Wiskott-Aldrich 综合征、普通可变免疫缺陷和高 IgM 综合征。共同的特征是免疫反应失调，影响 T 细胞和 B 细胞，中枢和/或外周耐受机制受到干扰。自身免疫和自身炎症也可能发生在联合免疫缺陷（CID）的非典型表型中，通常与严重的感染并发症有关。这些经典 CID 的意外表现非常有启发性，说明了 T 细胞和 B 细胞数量减少如何与淋巴细胞库和功能的偏倚有关。由此产生的免疫失调可能导致自身反应性、器官损伤和恶性肿瘤。
