title: Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation.
abstract: Recently, an inherited syndrome characterized by nonmalignant lymphoproliferation with autoimmune manifestations, caused by mutations of the Fas (CD95) receptor gene has been described. Because of disease severity, i.e. unremitting lymphoproliferation in a child with complete Fas deficiency, a haploidentical bone marrow transplantation (BMT) was performed despite the known resistance of Fas-deficient lpr mice to bone marrow transplantation. Marrow graft was rejected early; however, a second attempt using bone marrow from the mother led to engraftment and to control of lymphoproliferation and of autoimmune thrombocytopenia up to the last follow-up at 24 months after BMT. This single case shows that resistance to bone marrow engraftment caused by survival of Fas-deficient cells can be overcome.
authors.affiliation: Unité d'Immunologie et d'Hématologie, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Benkerrou
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: J P
authors.initials: JP
authors.lastname: de Villartay
authors.forename: S
authors.initials: S
authors.lastname: Caillat-Zucman
authors.forename: F
authors.initials: F
authors.lastname: Rieux-Laucat
authors.forename: N
authors.initials: N
authors.lastname: Jabado
authors.forename: M
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology* / Q000628:therapy*; D016026:Bone Marrow Transplantation / Q000276:immunology*; D005260:Female; D006085:Graft Survival; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000276:immunology* / Q000628:therapy*; D051379:Mice; D019463:Mice, Inbred MRL lpr; D009154:Mutation; D013577:Syndrome; D013997:Time Factors; D019014:fas Receptor / Q000235:genetics* / Q000378:metabolism*
chemical_list: D019014:fas Receptor