Monogenic autoimmune diseases - lessons of self-tolerance.
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.
Ulmanen
Ismo
I
National Public Health Institute, Department of Molecular Medicine, Biomedicum, Helsinki, Finland.
Halonen
Maria
M
Ilmarinen
Tanja
T
Peltonen
Leena
L
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
C508017:IL2RA protein, human; C508018:Il2ra protein, mouse; D053645:Interleukin-2 Receptor alpha Subunit; D018123:Receptors, Interleukin