Article
Human dectin-1 deficiency and mucocutaneous fungal infections.
The New England journal of medicine - 29 Oct 2009
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
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.