| http://purl.uniprot.org/citations/10515860 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10515860 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10515860 | http://www.w3.org/2000/01/rdf-schema#comment | "Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). We have identified 14 new heterozygous Fas mutations. Analysis of patients and families allow us to further dissect this syndrome with regards to the relationship between Fas mutations, inheritance pattern, and phenotype as observed on long-term follow-up. In vitro studies show that lymphocytes from all Fas mutant carriers exhibit a Fas-antibody-induced apoptosis defect. However, among the 8 inherited mutations, 4 of 4 Fas missense mutations were associated with high clinical penetrance, whereas 3 of 4 mutations leading to a truncated Fas product were associated with variable clinical penetrance. This suggests that a second defect, in another yet undefined factor involved in apoptosis and/or lymphoproliferation control, is necessary to induce full clinical expression of the disease. These results also indicate that the currently available antibody-mediated in vitro apoptosis assay does not necessarily reflect the in vivo ability of abnormal Fas molecules to trigger lymphocyte death. In addition, we found that lymphoproliferative manifestations resolved with age, whereas immunological disorders [ie, hypergammaglobulinemia and detection of TcR alphabeta(+) CD4(-) CD8(-) lymphocytes] persisted. This observation suggests that Fas-mediated apoptosis plays a more important role in lymphocyte homeostasis in early childhood than later on in life."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Bader-Meunier B."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Bader-Meunier B."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Nielsen S."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Nielsen S."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Oleastro M."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Oleastro M."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Solary E."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Solary E."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Le Deist F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Le Deist F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Chapel H."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Chapel H."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Arkwright P."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Arkwright P."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Bernaudin F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Bernaudin F."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Berrah M."xsd:string |
| http://purl.uniprot.org/citations/10515860 | http://purl.uniprot.org/core/author | "Berrah M."xsd:string |