Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

Baris S. , Alroqi F., Kiykim A., Karakoc-Aydiner E. , ÖĞÜLÜR İ. , Ozen A. , ...More

Journal of clinical immunology, vol.36, no.7, pp.641-8, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 7
  • Publication Date: 2016
  • Doi Number: 10.1007/s10875-016-0312-3
  • Title of Journal : Journal of clinical immunology
  • Page Numbers: pp.641-8
  • Keywords: STAT1, gain-of-function mutation, mucocutaneous candidiasis, combined immunodeficiency, autoimmunity, ruxolitinib, CHRONIC MUCOCUTANEOUS CANDIDIASIS, SIGNAL TRANSDUCER, INBORN-ERRORS, IMMUNITY, DEFICIENCY, ACTIVATOR


Loss and gain-of-function (GOF) mutations in human signal transducer and activator of transcription 1 (STAT1) lead to distinct phenotypes. Although recurrent infections are common to both types of STAT1 mutations, GOF mutations are distinguished by chronic mucocutaneous candidiasis and autoimmunity. However, the clinical spectra of STAT1 GOF mutations continue to expand. We here describe two patients with STAT1 GOF mutations presenting early in life with combined immunodeficiency (CID).