2. Academic Validation
  3. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

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.
Anne Puel 1,  Sophie Cypowyj,  Jacinta Bustamante,  Jill F Wright,  Luyan Liu,  Hye Kyung Lim,  Mélanie Migaud,  Laura Israel,  Maya Chrabieh,  Magali Audry,  Matthew Gumbleton,  Antoine Toulon,  Christine Bodemer,  Jamila El-Baghdadi,  Matthew Whitters,  Theresa Paradis,  Jonathan Brooks,  Mary Collins,  Neil M Wolfman,  Saleh Al-Muhsen,  Miguel Galicchio,  Laurent Abel,  Capucine Picard,  Jean-Laurent Casanova
Affiliations

Affiliation

  • 1 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France. anne.puel@inserm.fr
PMID: 21350122 DOI: 10.1126/science.1200439
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.

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