title: What's new in the Aire?
abstract: Unraveling the mechanisms underlying autoimmune disease remains a difficult challenge. Recent lessons learned from the study of AIRE (autoimmune regulator), the gene responsible for the rare monogenic human syndrome APS-1, highlight the power of genetics to reveal disease pathogenesis. With the discovery of AIRE, central tolerance has re-emerged as a crucial check against autoimmunity. Aire-mediated regulation of diverse self-antigens in the thymus serves as a paradigm for the importance of promiscuous gene expression in the prevention of autoimmune disease. Recent characterization of Aire-targeted antigens continues to bear this out. Here, we review the current progress surrounding the role of Aire in central tolerance from a molecular, genetic and developmental basis.
authors.affiliation: Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA.
authors.forename: Mickie H
authors.initials: MH
authors.lastname: Cheng
authors.forename: Anthony K
authors.initials: AK
authors.lastname: Shum
authors.forename: Mark S
authors.initials: MS
authors.lastname: Anderson
mesh_terms: D000818:Animals; D000941:Antigens / Q000276:immunology; D015551:Autoimmunity / Q000276:immunology*; D002454:Cell Differentiation / Q000276:immunology; D006801:Humans; D007108:Immune Tolerance / Q000276:immunology; D013950:Thymus Gland / Q000166:cytology / Q000276:immunology; D014157:Transcription Factors / Q000276:immunology*; D000096927:AIRE Protein
chemical_list: D000941:Antigens; D014157:Transcription Factors; D000096927:AIRE Protein