3 documents found, page 1 of 1
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
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 Candidiasis
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.
Herpes Simplex Encephalitis Does Interferon Care?
Painho, T; Vieira, JP; Silva, R; Conceição, C; Casanova, JL; Brito, MJIntroduction and aims: Herpes simplex encephalitis (HSE) is an acute, life-threatening disease, requiring prompt intervention. TLR3-interferon (IFN) axis defects in the antiviral innate immune response against HSV-1 and some genes (TLR3, UNC93B1 and TRAF3) probably play an important role in HSE pathogenesis. Methods: Descriptive study between January 2007 and December 2012 from HSE patients treated with acyclov...