The Ying and Yang of STAT3 in Human Disease

• Published in: Journal of clinical immunology Vol. 35; no. 7; pp. 615 - 623
• Main Authors: Vogel, Tiphanie P., Milner, Joshua D., Cooper, Megan A.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2015; Springer Nature B.V
• Subjects: Adult Stem Cells - physiology; Age; Animals; Autoimmune Diseases - genetics; Autoimmunity; Biomedical and Life Sciences; Biomedicine; CME Review; Disease Models, Animal; Hematologic Neoplasms - genetics; Humans; Immunoglobulin E; Immunology; Infectious Diseases; Internal Medicine; Job Syndrome - genetics; Job's syndrome; Malignancy; Medical Microbiology; Mutation; Mutation - genetics; Phosphorylation - genetics; Stat3 protein; STAT3 Transcription Factor - genetics; STAT3 Transcription Factor - metabolism; monogenic autoimmunity; Hyper-IgE syndrome; gain-of-function; STAT3; Job syndrome
• ISSN: 0271-9142; 1573-2592
• DOI: 10.1007/s10875-015-0187-8

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.