The Ying and Yang of STAT3 in Human Disease.
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.
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.
Tiphanie P
TP
Vogel
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
Joshua D
JD
Milner
Department of Pediatrics, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO, 63110, USA. cooper_m@kids.wustl.edu.|Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA. cooper_m@kids.wustl.edu.
Megan A
MA
Cooper
D053687:Adult Stem Cells / Q000502:physiology*; D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics*; D004195:Disease Models, Animal; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D007589:Job Syndrome / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010766:Phosphorylation / Q000235:genetics; D050796:STAT3 Transcription Factor / Q000235:genetics / Q000378:metabolism*
D050796:STAT3 Transcription Factor
Hyper-IgE syndrome; Job syndrome; STAT3; gain-of-function; monogenic autoimmunity