A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

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Authors

Abstract(s)

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.

Keywords

ACT1 Candida spp IL-17 TRAF3IP2 Chronic mucocutaneous candidiasis HDE PED

URI

http://hdl.handle.net/10400.17/4067

Citation

J Clin Immunol . 2021 Aug;41(6):1376-1379

Publisher

Springerlink

DOI

10.1007/s10875-021-01026-2

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