A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

J Clin Immunol. 2021 Aug;41(6):1376-1379. doi: 10.1007/s10875-021-01026-2. Epub 2021 Apr 7.

Abstract

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.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Child
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Interleukin-17 / genetics
  • Male
  • Mutation / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Interleukin-17
  • TRAF3IP2 protein, human