Article
Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
Immunogenetics - 1 Jun 2006
Turunen Joni A, Wessman Maija, Forsblom Carol, Kilpikari Riika, Parkkonen Maija, Pöntynen Nora, Ilmarinen Tanja, Ulmanen Ismo, Peltonen Leena, Groop Per-Henrik
Abstract excerpt
Mutations in the autoimmune regulator (AIRE) gene cause a recessive Mendelian disorder autoimmune polyendocrinopathy syndrome type 1 (APS-1 or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy). APS-1 patients develop multiorgan autoimmune diseases including type 1 diabetes (prevalence 12%). The AIRE protein controls the central tolerance induction in the thymus by regulating the expression levels of...
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