| http://purl.uniprot.org/citations/22195034 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22195034 | http://www.w3.org/2000/01/rdf-schema#comment | "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 and transfection experiments demonstrate that mutated STAT1 inhibits IL12R/IL-23R signaling, with hyperphosphorylation of STAT1 as the likely underlying molecular mechanism. Inhibition of signaling through the receptors for IL-12 and IL-23 leads to strongly diminished Th1/Th17 responses and hence to increased susceptibility to fungal infections. The challenge for the future is to translate this knowledge into novel strategies for the treatment of this severe immunodeficiency."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0029248"xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Hoischen A."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Veltman J.A."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Gennery A."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Netea M.G."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Smeekens S.P."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Arkwright P.D."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Joosten L.A."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Kullberg B.J."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "van de Veerdonk F.L."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "van der Meer J.W."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Plantinga T.S."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Lilic D."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/author | "Heinhuis B."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/name | "PLoS One"xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/pages | "e29248"xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/title | "STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis."xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://purl.uniprot.org/core/volume | "6"xsd:string |
| http://purl.uniprot.org/citations/22195034 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22195034 |
| http://purl.uniprot.org/citations/22195034 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22195034 |
| http://purl.uniprot.org/uniprot/#_D9N2T9-mappedCitation-22195034 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22195034 |
| http://purl.uniprot.org/uniprot/#_A2N4P8-mappedCitation-22195034 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22195034 |