The ying and yang of STAT3 in human disease

TP Vogel, JD Milner, MA Cooper - Journal of clinical immunology, 2015 - Springer
Journal of clinical immunology, 2015Springer
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 …
Abstract
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.
Springer