title: Lessons on immune tolerance from the monogenic disease APS1.
abstract: Autoimmunity is a complex disease process that results from a breakdown in the ability of the immune system to discriminate self from non-self. One approach to unraveling how autoimmunity occurs is to study monogenic diseases, for which a single gene defect is responsible. Recent work on the monogenic autoimmune disease 'autoimmune polyglandular syndrome type 1' (APS1) and on the causal gene of this disorder--autoimmune regulator (AIRE)--is providing new lessons on how immune tolerance is maintained.
authors.affiliation: University of California San Francisco Diabetes Center, HSW1102, San Francisco, CA 94143-0540, USA. jdevoss@diabetes.ucsf.edu
authors.forename: Jason J
authors.initials: JJ
authors.lastname: DeVoss
authors.forename: Mark S
authors.initials: MS
authors.lastname: Anderson
mesh_terms: D000818:Animals; D005786:Gene Expression Regulation; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics* / Q000276:immunology*; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics* / Q000276:immunology* / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein