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Advisor(s)
Abstract(s)
nborn 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.
Description
Keywords
Adaptor Proteins, Signal Transducing / genetics* Candidiasis, Chronic Mucocutaneous / genetics* Child Genetic Predisposition to Disease / genetics Humans Interleukin-17 / genetics Mutation / genetics* HDE PED
Citation
J Clin Immunol . 2021 Aug;41(6):1376-1379.