Aire deficient mice develop multiple features of APECED phenotype and show altered immune response
First report on aire knock-out mice. Increased prolifration of T cells challanged by immunisation
AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.
The homodimerization domain in the N-terminal part of AIRE contains a caspase recruitment domain. Disease-causing AIRE mutation is located here. Combined homology modeling and in vitro data now show how these APECED mutations influence AIRE function. AIRE
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway - phenotypic variation, autoantibodies and novel mutations in the autoimmune regulator (AIR
Report on Norwegian APECED patients including clinical features, autoantibodies including against interferons. Six novel mutations in the AIRE gene is reported
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
The paper identifies NALP5 as a novel autoantigen in APS I assosiated with hypoparathyroidism and also ovarian failure. NALP5 is expression is mainly restricted to the parathyroid cheif cells and ovaries. Its expression in thymus is regulated by Aire
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Comprehensive overview of the clinical features of APS I/APECED and personal clinical experience of professor Jaakko Perheentupa
Clinical variation of APECED
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
Description of clinical aspects of Finnish APS I patients
Increased antigen presenting cell-mediated T cell activation in mice and patients without the autoimmune regulator
Provides evidence for aire in peripheral dendritic cell regulation of T cell activation
Positional cloning of the APECED gene
The cloning of the AIRE gene
Positional cloning of the APECED gene.
Projection of an immunological self shadow within the thymus by the aire protein
Provide evidence that aire regulates negative selection in the thymus by regulating ectopic gene transcription