Human dectin-1 deficiency and mucocutaneous fungal infections.
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| 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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| Authors | Bart Ferwerda, 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 |
| Journal | The New England journal of medicine (N Engl J Med) Vol. 361 Issue 18 Pg. 1760-7 (Oct 29 2009) ISSN: 1533-4406 [Electronic] United States |
| PMID | 19864674 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | 2009 Massachusetts Medical Society |
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