Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Biomed J. 2021 Aug;44(4):412-421. doi: 10.1016/j.bj.2021.03.003. Epub 2021 Mar 20.
Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation. Recent discoveries highlight the role of germline activating STAT3 mutations in inborn errors of immunity characterized by early-onset multi-organ autoimmunity and lymphoproliferation. Much progress has been made in defining the clinical spectrum of STAT3 GOF disease and unraveling the molecular and cellular mechanisms underlying this disease. In this review, we summarize our current understanding of the disease and discuss the clinical phenotype, diagnostic approach, cellular and molecular effects of STAT3 GOF mutations and therapeutic concepts for these patients.
信号转导子和转录激活子 3（STAT3）是一种关键的转录因子，参与免疫细胞激活和分化的调节。最近的发现强调了种系激活 STAT3 突变在以多器官自身免疫和淋巴增生为特征的先天性免疫缺陷中的作用。在定义 STAT3 功能获得性疾病的临床谱和阐明该疾病的分子和细胞机制方面已经取得了很大进展。在这篇综述中，我们总结了我们对这种疾病的现有认识，并讨论了 STAT3 功能获得性突变的临床表型、诊断方法、细胞和分子效应以及这些患者的治疗概念。
