| http://purl.uniprot.org/citations/9028321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9028321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9028321 | http://www.w3.org/2000/01/rdf-schema#comment | "Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene. We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis. The children share common clinical features including splenomegaly and lymphadenopathy, but only one developed severe autoimmune manifestations. In all three siblings, we demonstrated the presence of anergic CD3+CD4-CD8-(double negative, [DN]) T cells; moreover, a chronic lymphocyte activation was found, as demonstrated by the presence of high levels of HLA-DR expression on peripheral CD3+ cells and by the presence of high levels of serum activation markers such as soluble interleukin-2 receptor (slL-2R) and soluble CD30 (sCD30)."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Notarangelo L.D."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Notarangelo L.D."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Brugnoni D."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Brugnoni D."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Malagoli A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Malagoli A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Quiros-Roldan E."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Quiros-Roldan E."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Correra A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Correra A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Bettinardi A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "Bettinardi A."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "La Grutta S."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/author | "La Grutta S."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/pages | "902-909"xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/pages | "902-909"xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/title | "Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis."xsd:string |
| http://purl.uniprot.org/citations/9028321 | http://purl.uniprot.org/core/title | "Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis."xsd:string |