A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

ABSTRACT: Inborn 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.

SUBMITTER: Marujo F 

PROVIDER: S-EPMC8316359 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature