Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

Anne Puel, Sophie Cypowyj, László Maródi, Laurent Abel, Capucine Picard, Jean Laurent Casanova

Research output: Contribution to journalReview article

167 Citations (Scopus)

Abstract

Purpose of reviewChronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome (AD-HIES) and autosomal recessive autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patientswith isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. Recent findings Low IL-17 T-cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations,prone to CMC and staphylococcal diseases, and in a kindred with autosomal recessive CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralizing autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic causes of CMCD were then reported: autosomal recessive IL-17RA and autosomal dominant IL-17F deficiencies and autosomal dominant STAT1 gain-of-function, impairing IL-17-roducing T-cell development. Summary Inborn errors of human IL-17 immunity underlie CMC. Impaired IL-17 immunity may therefore account for CMC in other settings, including patients with acquired immunodeficiency.

Original languageEnglish
Pages (from-to)616-622
Number of pages7
JournalCurrent Opinion in Allergy and Clinical Immunology
Volume12
Issue number6
DOIs
Publication statusPublished - Dec 1 2012

Keywords

  • Candida albicans
  • Chronic mucocutaneous candidiasis
  • Interleukin-17 immunity
  • Primary immunodeficiencies

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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