Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.

Abstract

Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. We report two genetic etiologies of CMCD: autosomal recessive deficiency in the cytokine receptor, interleukin-17 receptor A (IL-17RA), and autosomal dominant deficiency of the cytokine interleukin-17F (IL-17F). IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo- and heterodimers displaying impaired, but not abolished, activity. These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Candida albicans
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Candidiasis, Chronic Mucocutaneous / immunology*
  • Child
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Interleukin-17 / immunology*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Receptors, Interleukin-17 / genetics
  • Signal Transduction / genetics
  • Th17 Cells / immunology

Substances

  • Interleukin-17
  • Receptors, Interleukin-17

Associated data

  • GENBANK/JF305973
  • GENBANK/JF305974