Article: University of Bergen publishes research in Addison disease.

"Autoimmune polyendocrine syndrome type 1 (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge," researchers in Bergen, Norway report (see also Addison Disease).

"To screen for APS I among Slovakian patients with sporadic Addison's disease and clinical features that raised the suspicion of APS I. All 14 exons and exon-intron boundaries of the AIRE gene were sequenced. In addition, autoantibodies specific for Addison's disease and polyendocrine syndromes were assayed. Using ...

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