| http://purl.uniprot.org/citations/10192386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10192386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10192386 | http://www.w3.org/2000/01/rdf-schema#comment | "The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.org/dc/terms/identifier | "doi:10.1038/7701"xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.org/dc/terms/identifier | "doi:10.1038/7701"xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Altare F."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Altare F."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Holland S.M."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Holland S.M."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Jouanguy E."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Jouanguy E."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Schreiber R.D."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Schreiber R.D."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Fondaneche M.C."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Fondaneche M.C."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Dorman S.E."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Dorman S.E."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Brai M."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Brai M."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Emile J.F."xsd:string |
| http://purl.uniprot.org/citations/10192386 | http://purl.uniprot.org/core/author | "Emile J.F."xsd:string |