RGD Reference Report - Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. - Rat Genome Database

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Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

Authors: Rieux-Laucat, F  Le Deist, F  Hivroz, C  Roberts, IA  Debatin, KM  Fischer, A  De Villartay, JP 
Citation: Rieux-Laucat F, etal., Science. 1995 Jun 2;268(5215):1347-9.
RGD ID: 1600310
Pubmed: PMID:7539157   (View Abstract at PubMed)

Fas (also known as Apo1 and CD95) is a cell surface receptor involved in apoptotic cell death. Fas expression and function were analyzed in three children (including two siblings) with a lymphoproliferative syndrome, two of whom also had autoimmune disorders. A large deletion in the gene encoding Fas and no detectable cell surface expression characterized the most affected patient. Clinical manifestations in the two related patients were less severe: Fas-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. These findings illustrate the crucial regulatory role of Fas and may provide a molecular basis for some autoimmune diseases in humans.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
lymphoproliferative syndrome susceptibilityIAGP 1600310DNA:deletionsRGD 
lymphoproliferative syndrome susceptibilityISOFAS (Homo sapiens)1600310; 1600310DNA:deletionsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Fas  (Fas cell surface death receptor)

Genes (Mus musculus)
Fas  (Fas cell surface death receptor)

Genes (Homo sapiens)
FAS  (Fas cell surface death receptor)


Additional Information