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.
| Identifer | oai:union.ndltd.org:ETSU/oai:dc.etsu.edu:etsu-works-18336 |
| Date | 29 October 2009 |
| Creators | 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., Netea, Mihai G. |
| Publisher | Digital Commons @ East Tennessee State University |
| Source Sets | East Tennessee State University |
| Detected Language | English |
| Type | text |
| Source | ETSU Faculty Works |
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