| http://purl.uniprot.org/citations/9854038 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9854038 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9854038 | http://www.w3.org/2000/01/rdf-schema#comment | "Interferon-gamma receptor ligand-binding chain (IFN-gammaR1) or signaling chain (IFN-gammaR2) deficiency, like interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency, predispose to severe infections due to poorly virulent mycobacteria and salmonella. A child with bacille Calmette-Guérin and Salmonella enteritidis infection was investigated. Mutations in the genes for IFN-gammaR1, IFN-gammaR2, IL-12Rbeta1, and other molecules implicated in IL-12- or IFN-gamma-mediated immunity were sought. A large homozygous deletion within the IL-12 p40 subunit gene was found, precluding expression of functional IL-12 p70 cytokine by activated dendritic cells and phagocytes. As a result, IFN-gamma production by lymphocytes was markedly impaired. This is the first discovered human disease resulting from a cytokine gene defect. It suggests that IL-12 is essential to and appears specific for protective immunity to intracellular bacteria such as mycobacteria and salmonella."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci4950"xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci4950"xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Altare F."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Altare F."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Durandy A."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Durandy A."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Revy P."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Revy P."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Jouanguy E."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Jouanguy E."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Casanova J.-L."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Casanova J.-L."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Darbyshire P."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Darbyshire P."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Girdlestone J."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Girdlestone J."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Dockrell H."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Dockrell H."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Doeffinger R."xsd:string |
| http://purl.uniprot.org/citations/9854038 | http://purl.uniprot.org/core/author | "Doeffinger R."xsd:string |