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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Autores principales: | , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Public Library of Science (PLoS)
2011
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Acceso en línea: | https://doaj.org/article/b0055083eef94cb782b734cc171798d8 |
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