Ontology highlight
ABSTRACT:
SUBMITTER: Pomie C
PROVIDER: S-EPMC3145727 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Pomié Céline C Vicente Rita R Vuddamalay Yirajen Y Lundgren Brita Ardesjö BA van der Hoek Mark M Enault Geneviève G Kagan Jérémy J Fazilleau Nicolas N Scott Hamish S HS Romagnoli Paola P van Meerwijk Joost P M JP
Proceedings of the National Academy of Sciences of the United States of America 20110711 30
Mutations in the gene encoding the transcription factor autoimmune regulator (AIRE) are responsible for autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome. AIRE directs expression of tissue-restricted antigens in the thymic medulla and in lymph node stromal cells and thereby substantially contributes to induction of immunological tolerance to self-antigens. Data from experimental mouse models showed that AIRE deficiency leads to impaired deletion of autospecific T-cell precu ...[more]