Browsing by Author "Lei, WT"
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- A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous CandidiasisPublication . Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Farela Neves, Jnborn 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.
- A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous CandidiasisPublication . Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Neves, JFInborn 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.