| http://purl.uniprot.org/citations/11865431 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11865431 | http://www.w3.org/2000/01/rdf-schema#comment | "Interferon (IFN)-gamma-mediated immunity plays an important role in host defense against intracellular pathogens, especially mycobacteria. Six Japanese children with bacille Calmette-Guérin (BCG) osteomyelitis were evaluated (1 disseminated, 3 multiple, and 2 solitary types) for mutations of genes involved in interleukin-12-dependent, IFN-gamma-mediated immunity. Heterozygous small deletions with frameshift (818del4 and 811del4) that are consistent with the diagnosis of partial dominant IFN-gamma receptor 1 (IFN-gammaR1) deficiency were detected in 3 unrelated patients. Expression of IFN-gammaR1 on monocytes was significantly increased in all 3 patients. Screening of family members with recurrent and disseminated mycobacterial infections found the identical deletion in 1 of the fathers. Antimycobacterial treatment was effective in these patients and resulted in good clinical outcome. This study demonstrated that partial dominant IFN-gammaR1 deficiency was the most common in Japanese patients who showed predisposition to curable BCG osteomyelitis."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.org/dc/terms/identifier | "doi:10.1086/339011"xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Ahmed S."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Hamada K."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Hara T."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Sasaki Y."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Nomura A."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Takada H."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Kusuhara K."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Okimoto Y."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/author | "Obinata K."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/name | "J Infect Dis"xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/pages | "706-709"xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/title | "Genetic basis of patients with bacille Calmette-Guerin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type."xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://purl.uniprot.org/core/volume | "185"xsd:string |
| http://purl.uniprot.org/citations/11865431 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11865431 |
| http://purl.uniprot.org/citations/11865431 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11865431 |
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| http://purl.uniprot.org/uniprot/#_A0A2R8Y4U4-mappedCitation-11865431 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11865431 |
| http://purl.uniprot.org/uniprot/#_A1Z2M9-mappedCitation-11865431 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11865431 |
| http://purl.uniprot.org/uniprot/#_A5HJZ4-mappedCitation-11865431 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11865431 |