A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

nborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Keywords

Adaptor Proteins, Signal Transducing / genetics* Candidiasis, Chronic Mucocutaneous / genetics* Child Genetic Predisposition to Disease / genetics Humans Interleukin-17 / genetics Mutation / genetics* HDE PED