title: Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity.
abstract: Autoimmune polyendocrinopathy syndrome type 1 (APS1) is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene on chromosome 21. Several autoimmune diseases occur in APS1 patients, often starting in first two decades of life. A gene defective in APS1, autoimmune regulator (AIRE), encodes nuclear protein involved in transcriptional processes. Recent findings in animal models indicate a critical role for AIRE in regulation of self-antigen expression in thymus. Identification of the AIRE gene, detailed characterization of molecular pathogenesis of human APS1 as well as analyses of mouse models carrying targeted interruption of Aire gene have provided new views on our understanding of molecular background of autoimmunity.
authors.affiliation: Molecular Pathology, University of Tartu, Biomedicum, Ravila 19, Tartu 50411, Estonia. part.peterson@ut.ee
authors.forename: Pärt
authors.initials: P
authors.lastname: Peterson
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000818:Animals; D015551:Autoimmunity / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000209:etiology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein