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Article

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Journal of clinical immunology - 1 Aug 2021

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

Abstract excerpt

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.

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Candidiasis, Chronic Mucocutaneous

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Interleukin-17

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Source

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Identifiers

PMID: 33825088
DOI: 10.1007/s10875-021-01026-2
PMCID: PMC8316359

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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