STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) as a mutation in the STAT1 gene. In the present study we show that STAT1 Arg274Trp mutations in the coiled-coil (CC) domain is the genetic cause of AD-CMC in three families of patients. Cloning an...

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Detalles Bibliográficos
Autores principales: Smeekens, Sanne P., Plantinga, Theo S., van de Veerdonk, Frank L., Heinhuis, Bas, Hoischen, Alexander, Joosten, Leo A. B., Arkwright, Peter D., Gennery, Andrew, Kullberg, Bart Jan, Veltman, Joris A., Lilic, Desa, van der Meer, Jos W. M., Netea, Mihai G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237610/
https://www.ncbi.nlm.nih.gov/pubmed/22195034
http://dx.doi.org/10.1371/journal.pone.0029248

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