Gain-of-function signal transducer and activator of transcription 1 deficiency

Chronic mucocutaneous candidiasis (CMC) is characterized by persistent or recurrent disease of the nails, skin, oral, or genital mucosae caused by candida albicans.CMC usually can occur in patients with T cell deficiencies, autosomal dominant hyper-immunoglobulin E(IgE)syndrome, interleukin(IL)-12p40 and IL-12 receptor β1(IL-12Rβ1) deficiency, caspase recruiment domain 9 deficiency and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.CMC pathogenesis apparently involves the impairment of IL-17A, IL-17F and IL-22 immunity.Autosomal recessive IL-17RA deficiency and dominant-negative IL-17F deficiency are etiologies of pure isolated CMC (CMCD). Nearly half of patients with CMC had gain-of-function signal transducer and activator of transcription 1 mutations.These patients also had bacterial and virus infections, autoimmunity and inflammatory diseases, which show broad clinical heterogenity. Key words: Gain-of-function signal transducer and activator of transcription 1 mutation; Chronic mucocutaneous candidiasis; Autoimmunity; Inflammatory