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

Abstract

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