title: Gene therapy of X-linked severe combined immunodeficiency.
abstract: This review addresses several questions in the light of the results recently obtained by a gene therapy trial for the treatment of X-linked severe combined immunodeficiency. This primary immunodeficiency, characterized by a complete absence of T and natural killer lymphocytes, appeared as a good model for the application of gene therapy, combining an expected selective advantage for transduced cells, an absence of immunological response to the vector and/or the therapeutic transgene together with accessibility to hematopoietic stem cells. After a brief description of the disease and its physiopathology we summarize the clinical results of the gene therapy trial putting them in perspective with those obtained following allogeneic hematopoietic stem cell transplantation. Definitive conclusions cannot be thrown due to the limited number of gene therapy-treated patients and their relatively short follow-up.
authors.affiliation: INSERM U429, Hôpital Necker Enfants Malades, Paris, France. cavazzan@necker.fr
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: Salima
authors.initials: S
authors.lastname: Hacein-Bey-Abina
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
mesh_terms: D016026:Bone Marrow Transplantation / Q000379:methods; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000628:therapy; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008297:Male; D011379:Prognosis; D018570:Risk Assessment; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000628:therapy*; D033581:Stem Cell Transplantation / Q000379:methods*; D014184:Transplantation, Homologous; D016896:Treatment Outcome