Human dectin-1 deficiency and mucocutaneous fungal infections.
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.
Ferwerda, B; Ferwerda, G; Plantinga, TS; Willment, JA; van Spriel, AB; Venselaar, H; Elbers, CC; Johnson, MD; Cambi, A; Huysamen, C; Jacobs, L; Jansen, T; Verheijen, K; Masthoff, L; Morré, SA; Vriend, G; Williams, DL; Perfect, JR; Joosten, LAB; Wijmenga, C; van der Meer, JWM; Adema, GJ; Kullberg, BJ; Brown, GD; Netea, MG
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