Author(s): Marujo, F ; Pelham, SJ ; Freixo, J ; Cordeiro, AI ; Martins, C ; Casanova, JL ; Lei, WT ; Puel, A ; Neves, JF
Date: 2021
Persistent ID: http://hdl.handle.net/10400.17/4067
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): ACT1; Candida spp; IL-17; TRAF3IP2; Chronic mucocutaneous candidiasis; HDE PED
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.
