Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Document Type
Article
Publication Date
10-29-2009
Description
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 β-glucan receptor dectin-1. The mutated form of dectin-1 was poorly expressed, did not mediate β-glucan binding, and led to defective production of cytokines (interleukin-17, tumor necrosis factor, and interleukin-6) after stimulation with β-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.
Citation Information
Ferwerda, Bart; Ferwerda, Gerben; Plantinga, Theo S.; Willment, Janet A.; Van Spriel, Annemiek B.; Venselaar, Hanka; Elbers, Clara C.; Johnson, Melissa D.; Cambi, Alessandra; Huysamen, Cristal; Jacobs, Liesbeth; Jansen, Trees; Verheijen, Karlijn; Masthoff, Laury; Morré, Servaas A.; Vriend, Gert; Williams, David L.; Perfect, John R.; Joosten, Leo A.B.; Wijmenga, Cisca; Van Der Meer, Jos W.M.; Adema, Gosse J.; Kullberg, Bart Jan; Brown, Gordon D.; and Netea, Mihai G.. 2009. Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections. New England Journal of Medicine. Vol.361(18). 1760-1767. https://doi.org/10.1056/NEJMoa0901053 PMID: 19864674 ISSN: 0028-4793