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. , ...Daha Fazla

Journal of clinical immunology, cilt.36, sa.7, ss.641-8, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Konu: 7
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s10875-016-0312-3
  • Dergi Adı: Journal of clinical immunology
  • Sayfa Sayıları: ss.641-8


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).