| http://purl.uniprot.org/citations/21727188 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21727188 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21727188 | http://www.w3.org/2000/01/rdf-schema#comment | "Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/β, IFN-γ, IFN-λ, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/β, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20110958"xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20110958"xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Kobayashi M."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Kobayashi M."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Karin N."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Karin N."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Liu L."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Liu L."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Bodemer C."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Bodemer C."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Masson C."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Masson C."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |
| http://purl.uniprot.org/citations/21727188 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |