Sporadic Case Of Chronic Mucocutaneous Candidiasis (CMC) Due To a Gain-Of-Function Mutation In STAT1 In a 13 Year Old Female

Abstract

Chronic Mucocutaneous Candidiasis(CMC) describes a group of immunodeficiencies with recurrent Candidal infections of integument and mucous membranes. Autosomal recessive CMC is associated with chronic candidiasis with endocrinopathies caused by an AIRE mutation. Autosomal dominant CMC has no associated endocrinopathy. Mutations involving TLR, CARD9, or DECTIN1 resulting in disruption of TH17 response to Candida have been reported. Currently, there are no clear criteria for diagnosing variants of CMC or for predicting most likely manifestations.