Vogel Tiphanie P, Milner Joshua D, Cooper Megan A
Department of Pediatrics, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Department of Internal Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
J Clin Immunol. 2015 Oct;35(7):615-23. doi: 10.1007/s10875-015-0187-8. Epub 2015 Aug 18.
The transcription factor signal transducer and activator of transcription 3 (STAT3) is a critical regulator of multiple, diverse cellular processes. Heterozgyous, germline, loss-of-function mutations in STAT3 lead to the primary immune deficiency Hyper-IgE syndrome. Heterozygous, somatic, gain-of-function mutations in STAT3 have been reported in malignancy. Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity. This review summarizes what is known about the role of STAT3 in human disease.
转录因子信号转导子和转录激活子3(STAT3)是多种不同细胞过程的关键调节因子。STAT3的杂合、种系、功能丧失突变会导致原发性免疫缺陷高IgE综合征。在恶性肿瘤中已报道了STAT3的杂合、体细胞、功能获得性突变。最近,已发现STAT3中导致功能获得的种系杂合突变,并导致早发性多器官自身免疫。本综述总结了目前已知的STAT3在人类疾病中的作用。