• 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, and Mihai G Netea.
• Department of Internal Medicine and the Nijmegen Institute for Infection, Inflammation, and Immunity, Radboud University Nijmegen, Nijmegen, The Netherlands.
• N. Engl. J. Med. 2009 Oct 29; 361 (18): 176017671760-7.

AbstractMucocutaneous 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.2009 Massachusetts Medical Society

33 keywords...

hide…