Department of Dermatology, University of Illinois at Chicago, Chicago, USA.
Division of Dermatology, Rush University Medical Center, Chicago, USA.
Adv Exp Med Biol. 2022;1367:173-212. doi: 10.1007/978-3-030-92616-8_8.
Dermatological conditions constituting the group of autoimmune blistering diseases (AIBD) are characterized by loss of immunotolerance and humoral, as well as cellular, autoimmune responses that result in the development of bullae and erosions on the skin and mucous membranes. AIBDs are broadly categorized into pemphigus and pemphigoid classes with several distinct subtypes amongst them. Advances in genetics have allowed for the study and identification of alleles, and even single nucleotide polymorphisms, that harbor increased susceptibility or confer protection for the development of these conditions. The focus of this chapter pertains to a comprehensive review of the known genetic associations with AIBDs, including HLA class I-III, as well as non-HLA genes and non-coding sequences that influence cellular processes and signaling pathways.
皮肤疾病构成自身免疫性疱病(AIBD)的一组特征是免疫耐受和体液,以及细胞自身免疫反应的丧失,导致水疱和皮肤和粘膜的侵蚀。AIBD 广泛分类为天疱疮和类天疱疮类,其中有几个不同的亚型。遗传学的进步允许对携带增加的易感性或赋予对这些疾病发展的保护的等位基因,甚至单核苷酸多态性进行研究和鉴定。本章的重点是对 AIBD 的已知遗传关联的全面综述,包括 HLA I-III 类,以及影响细胞过程和信号通路的非 HLA 基因和非编码序列。