伴有自身免疫和免疫调节异常的免疫缺陷疾病——单基因自身免疫性疾病。
Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases.
作者信息
Lehman Heather K, Ballow Mark
机构信息
Division of Allergy/Immunology, Department of Pediatrics, Women and Children's Hospital of Buffalo, University at Buffalo School of Medicine and Biomedical Sciences, 219 Bryant Street, Buffalo, NY 14222, USA.
出版信息
Clin Rev Allergy Immunol. 2008 Apr;34(2):141-5. doi: 10.1007/s12016-007-8038-x.
Autoimmunity is frequently observed in patients with primary immune deficiency disorders. Monogenic autoimmune diseases include a group of disorders with characteristic autoimmunity and immune deficiency for which single gene defects have been identified. Currently recognized monogenic autoimmune diseases include autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, immunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndrome, autoimmune lymphoproliferative syndrome, and interleukin-2 receptor alpha-chain deficiency. These diseases offer important insights into the mechanisms of central and peripheral immune tolerance and the pathogenesis of defects in these mechanisms.
自身免疫现象在原发性免疫缺陷疾病患者中屡见不鲜。单基因自身免疫性疾病包括一组具有特征性自身免疫和免疫缺陷的疾病，针对这些疾病已鉴定出单基因缺陷。目前公认的单基因自身免疫性疾病包括自身免疫性多内分泌腺病念珠菌病和外胚层发育不良、免疫失调多内分泌腺病肠病和X连锁遗传综合征、自身免疫性淋巴增生综合征以及白细胞介素-2受体α链缺陷。这些疾病为深入了解中枢和外周免疫耐受机制以及这些机制缺陷的发病机制提供了重要线索。
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