Gain-of-function signal transducer and activator of transcription 1 deficiency / 中华实用儿科临床杂志

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.