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Article

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.

European journal of endocrinology - 1 May 2008

F Magitta Ng'weina, Pura Mikulás, S Bøe Wolff Anette, Vanuga Peter, Meager Anthony, M Knappskog Per, Husebye Eystein S

Abstract excerpt

BACKGROUND: Autoimmune polyendocrine syndrome type I (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. OBJECTIVE: To screen for APS I among Slovakian patients with sporadic Addison's disease and clinical features that...

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Source

Identifiers

PMID: 18426830
DOI: 10.1530/EJE-07-0843

Genes

AIRE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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