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Related Experiment Video

Updated: Nov 9, 2025

Whole Genome Sequencing of Candida glabrata for Detection of Markers of Antifungal Drug Resistance
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A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Filipa Marujo1, Simon J Pelham2, João Freixo3

  • 1Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. filipa.marujo10@gmail.com.

Journal of Clinical Immunology
|April 7, 2021
PubMed
Summary

Chronic mucocutaneous candidiasis (CMC) can stem from IL-17 pathway defects. A novel mutation in TRAF3IP2 caused ACT1 deficiency, leading to severe CMC, atopic dermatitis, and enamel issues in a patient.

Keywords:
ACT1Candida spp.IL-17TRAF3IP2chronic mucocutaneous candidiasis

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Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Interleukin-17 (IL-17) mediated signaling is crucial for host defense against fungal infections, particularly Candida species.
  • Inborn errors affecting the IL-17 pathway are known causes of chronic mucocutaneous candidiasis (CMC).

Observation:

  • A patient presented with a complex phenotype including CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis.
  • Genetic analysis revealed a novel compound heterozygous mutation in the TRAF3IP2 gene in the affected individual.

Findings:

  • The identified mutation resulted in autosomal recessive ACT1 deficiency, a critical component of the IL-17 receptor complex.
  • This deficiency led to impaired IL-17 signaling, explaining the susceptibility to mucocutaneous candidiasis and other associated symptoms.

Implications:

  • This case expands the spectrum of genetic defects causing CMC and highlights the importance of ACT1 in immune regulation.
  • Understanding this novel mutation provides insights into IL-17 pathway function and potential therapeutic targets for related immunodeficiencies.