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Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

2009; Massachusetts Medical Society; Volume: 361; Issue: 18 Linguagem: Inglês

10.1056/nejmoa0901053

1533-4406

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, L. J. Masthoff, Servaas A. Morré, Gert Vriend, David L. Williams, John R. Perfect, Leo A. B. Joosten, Cisca Wijmenga, J.W.M. van der Meer, Gosse J. Adema, Bart Jan Kullberg, Gordon D. Brown, Mihai G. Netea,

Fungal Infections and Studies

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.