| http://purl.uniprot.org/citations/17514500 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17514500 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17514500 | http://www.w3.org/2000/01/rdf-schema#comment | "Unusual susceptibility to mycobacterial infections can be caused by deleterious mutations in genes that encode the interferon-gamma receptor 1 chain. Such mutations hamper the activation of macrophages by a type 1 immune response and result in enhanced survival of intracellular pathogens. We here report two patients with unusual mycobacterial infections, both diagnosed with homozygous deleterious interferon-gamma receptor 1 gene mutations. Patient 1 became ill after Bacillus Calmette-Guérin vaccination at the age of 9 months and died at the age of 18 months. She carried a homozygous C71Y mutation in the extracellular part of the mature interferon-gamma receptor 1 protein, resulting in the lack of detectable protein expression and absence of interferon-gamma dependent signaling. Patient 2 became ill at the age of 3 years, is still alive at 19 years of age, and has suffered from five successive infection episodes with atypical mycobacteria. A homozygous splice-site mutation in intron 3 was identified, resulting in the deletion of exon 3 at the mRNA level and consequently a truncated interferon-gamma receptor 1 protein with absence of the transmembrane domain. Protein expression and interferon-gamma dependent signaling were not detectable."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10875-007-9097-8"xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10875-007-9097-8"xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Boer T."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Boer T."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Ottenhoff T.H."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Ottenhoff T.H."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Verreck F.A."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Verreck F.A."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Hartwig N.G."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Hartwig N.G."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Noordzij J.G."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Noordzij J.G."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Bruin-Versteeg S."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Bruin-Versteeg S."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Groot R."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "De Groot R."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Van Dissel J.T."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Van Dissel J.T."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Van Dongen J.J."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/author | "Van Dongen J.J."xsd:string |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17514500 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |