title: Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.
abstract: 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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) U 429, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Rieux-Laucat
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: C
authors.initials: C
authors.lastname: Hivroz
authors.forename: I A
authors.initials: IA
authors.lastname: Roberts
authors.forename: K M
authors.initials: KM
authors.lastname: Debatin
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: J P
authors.initials: JP
authors.lastname: de Villartay
mesh_terms: D000595:Amino Acid Sequence; D000954:Antigens, Surface / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D017209:Apoptosis; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D001483:Base Sequence; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics / Q000276:immunology / Q000473:pathology; D019014:fas Receptor
chemical_list: D000954:Antigens, Surface; D019014:fas Receptor