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