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.

Original languageEnglish
Pages (from-to)615-623
Number of pages9
JournalJournal of Clinical Immunology
Issue number7
StatePublished - Aug 18 2015


  • Hyper-IgE syndrome
  • Job syndrome
  • STAT3
  • gain-of-function
  • monogenic autoimmunity


Dive into the research topics of 'The Ying and Yang of STAT3 in Human Disease'. Together they form a unique fingerprint.

Cite this