严重皮肤不良反应的遗传学
Genetics of Severe Cutaneous Adverse Reactions.
作者信息
Yang Shang-Chen, Chen Chun-Bing, Lin Mao-Ying, Zhang Zhi-Yang, Jia Xiao-Yan, Huang Ming, Zou Ya-Fen, Chung Wen-Hung
机构信息
Department of Dermatology, Xiamen Chang Gung Allergology Consortium, Xiamen Chang Gung Hospital, Xiamen, China.
Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
出版信息
Front Med (Lausanne). 2021 Jul 15;8:652091. doi: 10.3389/fmed.2021.652091. eCollection 2021.
Severe cutaneous adverse reactions (SCARs) including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug rash with eosinophilia and systemic symptoms (DRESS) are T cells-mediated life-threatening immune reactions, most commonly induced by drug. The last decade has seen significant progress in SCARs research. Recent studies have unveiled the pathogenesis of SCARs involved in susceptible genes, including human leukocyte antigens (HLA) and drugs-T cell receptor (TCR) interaction that may trigger T cell activation with downstream immune signaling of cytokines/chemokines and specific cytotoxic proteins releases. Advances in identification of multiple genetic alleles associated with specific drugs related SCARS in different populations is an important breakthrough in recent years for prevention of SCARs. This article summarized the findings on genetic factors related to SJS/TEN, especially for HLA.
严重皮肤不良反应（SCARs）包括史蒂文斯-约翰逊综合征（SJS）、中毒性表皮坏死松解症（TEN）以及伴有嗜酸性粒细胞增多和全身症状的药物疹（DRESS），是由T细胞介导的危及生命的免疫反应，最常见由药物诱发。过去十年间，SCARs研究取得了重大进展。近期研究揭示了SCARs的发病机制，涉及易感基因，包括人类白细胞抗原（HLA）以及药物与T细胞受体（TCR）的相互作用，这种相互作用可能通过细胞因子/趋化因子的下游免疫信号传导和特定细胞毒性蛋白的释放来触发T细胞活化。在不同人群中鉴定与特定药物相关的SCARs相关的多个基因等位基因方面取得的进展是近年来预防SCARs的一项重要突破。本文总结了与SJS/TEN相关的遗传因素的研究结果，特别是关于HLA的研究结果。
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