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

6 Citations (Scopus)


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
Pages (from-to) 1376 - 1379
JournalJournal Of Clinical Immunology
Issue number6
Publication statusPublished - Aug 2021


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


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