摘要
天疱疮是一组少见、严重时可危及生命的自身免疫性大疱性疾病,好发于40~60岁中年人,寻常型天疱疮（PV）是天疱疮最常见的一型。它是一种典型的器官特异性疾病,临床表现为皮肤和黏膜出现松弛性水疱。PV病因有多种,涉及遗传、环境、内分泌和免疫因素。近年来,对人类白细胞抗原等位基因在PV疾病的发生、发展中的研究最为深入,科研工作者通过应用全基因组关联研究提高了对天疱疮的认识。
Pemphigus is a rare and sometimes lethal autoimmune bullous disorder. Most of the patients with pemphigus are aged 40-60 years at the onset of the disease. Pemphigus vulgaris（PV） is representative of the pemphigus group. It is a prototypical organ specific human autoimmune disease with the clinical manifestation of flaccid blister formation on the skin and mucous membranes. PV causes include a variety of genetic, environmental, hormonal and immunological factors. In recent years, the research on the human leukocyte antigen alleles in the occurrence and development of PV disease is the most thorough, and the scientists have performed a genome-wide association studies（GWAS） which provides new insights for pemphigus.
出处
《医学综述》
2016年第18期3568-3571,共4页
Medical Recapitulate
关键词
寻常型天疱疮
基因
全基因组关联
人类白细胞抗原
Pemphigus vulgaris
Genes
Genome-wide association studies
Human leukocyte antigen
