Article
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
Genes and immunity - 1 Mar 2008
Bøe Wolff A S, Oftedal B, Johansson S, Bruland O, Løvås K, Meager A, Pedersen C, Husebye E S, Knappskog P M
Abstract excerpt
Autoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear. In the present study, we investigated whether polymorphisms or copy number variations in the AIRE gene were associated with AAD and APS II. First, nine SNPs in the AIRE gene were...
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