title: Primary immunodeficiency diseases: natural mutant models for the study of the immune system.
abstract: Primary immunodeficiency diseases represent many natural mutant models for the analysis of many aspects of immunology. Examples dealing with T- and B-cell receptors are herein discussed. They also represent privileged models in medicine, because well characterized monogenic inherited diseases can in some instances be viewed as good targets for gene therapy as shown here for severe combined immunodeficiency (SCID).
authors.affiliation: Unité d'Immunologie et d'Hématologie Pédiatriques/INSERM Unit 429, University Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000818:Animals; D015322:Gene Rearrangement, B-Lymphocyte; D015329:Gene Rearrangement, T-Lymphocyte; D015316:Genetic Therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology* / Q000628:therapy; D051379:Mice; D018448:Models, Immunological; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000276:immunology / Q000628:therapy