A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Filipa Marujo, Simon J. Pelham, João Freixo, Ana Isabel Cordeiro, Catarina Martins, Jean Laurent Casanova, Wei Te Lei, Anne Puel, João Farela Neves

Research output: Contribution to journalLetterpeer-review

1 Citation (Scopus)

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.

Original languageEnglish
JournalJournal Of Clinical Immunology
DOIs
Publication statusE-pub ahead of print - 2021

Keywords

  • ACT1
  • Candida spp
  • chronic mucocutaneous candidiasis
  • IL-17
  • TRAF3IP2

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