The Ying and Yang of STAT3 in Human Disease.
The Ying and Yang of STAT3 in Human Disease.
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DOI：
10.1007/s10875-015-0187-8
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发表时间：
2015-10
影响因子：
9.1
通讯作者：
Cooper MA
中科院分区：
文献类型：
--
作者：
Vogel TP;Milner JD;Cooper MA
转录因子信号转导子和转录激活子3（STAT3）是多种多样的细胞过程的关键调节因子。STAT3中的杂合、种系、功能丧失突变导致原发性免疫缺陷高IgE综合征。在恶性肿瘤中已经报道了STAT3中的杂合、体细胞、功能获得性突变。最近，已经发现了赋予功能获得性的STAT3的种系杂合突变，并导致早发性多器官自身免疫。本文综述了STAT3在人类疾病中的作用。
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.