title: Monogenic autoimmune diseases - lessons of self-tolerance.
abstract: The molecular defects recently identified in the rare monogenic autoimmune diseases (AIDs) have pinpointed critical steps in the pathways that contribute to the development of normal immune responses and self-tolerance. Recent studies of autoimmune polyendocrinopathy syndrome type 1, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy and enteropathy, X-linked, IL-2 receptor alpha-chain deficiency, and, in particular, their corresponding mouse models, have revealed the details of the molecular mechanisms of normal immune tolerance, and exposed how defects in these mechanisms result in human autoimmunity. In addition to a deeper understanding of the immune system, detailed molecular characterization of monogenic AIDs will help us to understand the mechanisms behind common polygenic AIDs and, furthermore, to develop novel therapies and intervention strategies to treat them.
authors.affiliation: National Public Health Institute, Department of Molecular Medicine, Biomedicum, Helsinki, Finland.
authors.forename: Ismo
authors.initials: I
authors.lastname: Ulmanen
authors.forename: Maria
authors.initials: M
authors.lastname: Halonen
authors.forename: Tanja
authors.initials: T
authors.lastname: Ilmarinen
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology*; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000276:immunology; D053645:Interleukin-2 Receptor alpha Subunit; D008232:Lymphoproliferative Disorders / Q000235:genetics; D051379:Mice; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000276:immunology; D018123:Receptors, Interleukin / Q000172:deficiency; D017634:Self Tolerance; D050378:T-Lymphocytes, Regulatory / Q000276:immunology
chemical_list: C508017:IL2RA protein, human; C508018:Il2ra protein, mouse; D053645:Interleukin-2 Receptor alpha Subunit; D018123:Receptors, Interleukin