title: [Genetic anomalies of the human immune system].
abstract: The development of genetic tools in the recent years has made possible the characterization of the molecular basis from several genetic disorders of the human system. These findings lead to a better understanding of the physiology of the human system as well as to the definition of improved diagnosis tools offering new perspectives in genetic counseling and therapeutics. Recently, genetic disorders of the regulation of the immune system have been described both in men and mice. These diseases are characterized by a defective control of activation/proliferation of lymphocytes and macrophages. Their study opens a new field in immunological research. Understanding of their molecular basis showed help to define susceptibility factors to autoimmune disorders.
authors.affiliation: INSERM U 429 et Unité d'Immuno-Hématologie, Hôpital des Enfants Malades, Paris.
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000818:Animals; D017951:Antigen Presentation / Q000235:genetics; D006801:Humans; D007107:Immune System / Q000502:physiology*; D008213:Lymphocyte Activation / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics