Moraes-Vasconcelos D, Costa-Carvalho B T, Torgerson T R, Ochs H D
Laboratory of Medical Investigation in Dermatology and Immunodeficiencies (LIM/56) and Primary Immunodeficiency Outpatient Unit (ADEE-3003), University of São Paulo School of Medicine, São Paulo, Brazil.
J Clin Immunol. 2008 May;28 Suppl 1:S11-9. doi: 10.1007/s10875-008-9176-5. Epub 2008 Feb 9.
Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in primary immune deficiency disorders (PIDDs) has been strengthened by the recent discovery of distinct clinical entities linked to single-gene defects resulting in multiple autoimmune phenomena including immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, and autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) syndrome.
Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.
几种原发性免疫缺陷疾病与自身免疫和恶性肿瘤相关，提示存在免疫失调状态。原发性免疫缺陷疾病（PIDD）中免疫失调作为自身免疫直接病因的概念，因最近发现与单基因缺陷相关的独特临床实体而得到强化，这些单基因缺陷导致多种自身免疫现象，包括免疫失调、多内分泌腺病、肠病和X连锁（IPEX）综合征，以及自身免疫性多内分泌腺病、念珠菌病和外胚层营养不良（APECED）综合征。
回顾我们对有明确自身免疫病因的一小部分PIDD患者的最新认识进展，可能会为特发性人类自身免疫性疾病开发出更有效的治疗策略。
