Marujo, FPelham, SJFreixo, JCordeiro, AIMartins, CCasanova, JLLei, WTPuel, AFarela Neves, J2023-03-222023-03-222021J Clin Immunol . 2021 Aug;41(6):1376-1379.http://hdl.handle.net/10400.17/4470nborn 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.engAdaptor Proteins, Signal Transducing / genetics*Candidiasis, Chronic Mucocutaneous / genetics*ChildGenetic Predisposition to Disease / geneticsHumansInterleukin-17 / geneticsMutation / genetics*HDE PEDjournal article10.1007/s10875-021-01026-2