title: [Hereditary abnormalities in the immune system: physiology and treatment].
abstract: There are multiple genetic abnormalities of the immune system. About one hundred syndromes have been so far described. All of them disturb immune defenses against microorganism invasions and/or the homeostasis of the immune system. Thanks to the advances in genomics, genetic and molecular basis of more than 80 of these conditions, have been unravelled. These achievements provide significant insight into the understanding of many steps of the biology of the immune system, i.e., its development, function and regulation. It is also the basis for the design of molecular diagnostic tools and perhaps for new therapeutics of these severe disorders.
authors.affiliation: Inserm U429 & U.I.H. Hôpital Necker-Enfants Malades, 75015 Paris.
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D006706:Homeostasis; D006801:Humans; D007107:Immune System / Q000502:physiology / Q000503:physiopathology; D007154:Immune System Diseases / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy