biostudies-literatureMarujo FNIAID NIH HHS1376-1379https://www.ebi.ac.uk/biostudies/studies/S-EPMC8316359biostudies-literatureUnknown41(6)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.Journal of clinical immunologyA Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.PMC8316359R01 AI127564Freixo JMartins CPelham SJLei WTMarujo FCordeiro AICasanova JLPuel ANeves JFfalseA Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.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.2021-01-01T00:00:00Z2021 Aug2025-04-26T16:30:18.731Z2025-04-06T15:12:09.863ZS-EPMC83163593382508810.1007/s10875-021-01026-2