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. O., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.36, no.7, pp.641-648, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 7
  • Publication Date: 2016
  • Doi Number: 10.1007/s10875-016-0312-3
  • Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.641-648
  • Keywords: STAT1, gain-of-function mutation, mucocutaneous candidiasis, combined immunodeficiency, autoimmunity, ruxolitinib, CHRONIC MUCOCUTANEOUS CANDIDIASIS, SIGNAL TRANSDUCER, INBORN-ERRORS, IMMUNITY, DEFICIENCY, ACTIVATOR
  • Marmara University Affiliated: Yes

Abstract

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).