Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutation in STAT1

Background: Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by susceptibility to chronic or recurrent superficial Candida infection of skin, nails, and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common reported cause of CMC. We describe here the clinical and genetic findings for 3 patients with CMC caused by novel gain-of-function mutations in STAT1-GOF.

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