2. Academic Validation
  3. Human dectin-1 deficiency and mucocutaneous fungal infections

Human dectin-1 deficiency and mucocutaneous fungal infections

  • N Engl J Med. 2009 Oct 29;361(18):1760-7. doi: 10.1056/NEJMoa0901053.
Bart Ferwerda 1,  Gerben Ferwerda,  Theo S Plantinga,  Janet A Willment,  Annemiek B van Spriel,  Hanka Venselaar,  Clara C Elbers,  Melissa D Johnson,  Alessandra Cambi,  Cristal Huysamen,  Liesbeth Jacobs,  Trees Jansen,  Karlijn Verheijen,  Laury Masthoff,  Servaas A Morré,  Gert Vriend,  David L Williams,  John R Perfect,  Leo A B Joosten,  Cisca Wijmenga,  Jos W M van der Meer,  Gosse J Adema,  Bart Jan Kullberg,  Gordon D Brown,  Mihai G Netea
Affiliations

Affiliation

  • 1 Department of Internal Medicine and the Nijmegen Institute for Infection, Inflammation, and Immunity, Radboud University Nijmegen, Nijmegen, The Netherlands.
PMID: 19864674 DOI: 10.1056/NEJMoa0901053
Abstract

Mucocutaneous Fungal infections are typically found in patients who have no known immune defects. We describe a family in which four women who were affected by either recurrent vulvovaginal candidiasis or onychomycosis had the early-stop-codon mutation Tyr238X in the beta-glucan receptor Dectin-1. The mutated form of Dectin-1 was poorly expressed, did not mediate beta-glucan binding, and led to defective production of cytokines (interleukin-17, tumor necrosis factor, and interleukin-6) after stimulation with beta-glucan or Candida albicans. In contrast, Fungal phagocytosis and Fungal killing were normal in the patients, explaining why Dectin-1 deficiency was not associated with invasive Fungal infections and highlighting the specific role of Dectin-1 in human mucosal Antifungal defense.

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