| http://purl.uniprot.org/citations/9322534 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9322534 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9322534 | http://www.w3.org/2000/01/rdf-schema#comment | "Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune hepatitis with the immunologic and genetic features of autoimmune lymphoproliferative syndrome is described. The clinical picture was dominated by liver disease with hepatosplenomegaly and positivity for anti-liver-kidney microsome 1 and anti-liver-cytosol 1 antibodies. A marked increase in CD3+CD4-CD8-T lymphocytes and inherited mutations in Fas alleles that led to the expression of a soluble form of the protein were also found. Fas-mediated apoptosis was deficient in the patient as it was in her mother and her sister, who carried the same allele 2 mutation. This observation links type 2 autoimmune hepatitis, an organ-specific disease, with a genetically determined defect in peripheral tolerance control."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.org/dc/terms/identifier | "doi:10.1053/gast.1997.v113.pm9322534"xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.org/dc/terms/identifier | "doi:10.1053/gast.1997.v113.pm9322534"xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Vajro P."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Vajro P."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Iorio R."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Iorio R."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Vegnente A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Vegnente A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Costanzo A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Costanzo A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Natoli G."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Natoli G."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Nisini R."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Nisini R."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Ianni A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Ianni A."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Levrero M."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Levrero M."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Balsano C."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Balsano C."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Accapezzato D."xsd:string |
| http://purl.uniprot.org/citations/9322534 | http://purl.uniprot.org/core/author | "Accapezzato D."xsd:string |