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Article

Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.

Clinical endocrinology - 1 May 2010

Tóth Beáta, Wolff Anette S B, Halász Zita, Tar Attila, Szüts Péter, Ilyés István, Erdos Melinda, Szegedi Gyula, Husebye Eystein S, Zeher Margit, Maródi László

Abstract excerpt

OBJECTIVE: Autoimmune polyendocrine syndrome type I (APS I) is a rare primary immunodeficiency disorder characterized by chronic mucocutaneous candidiasis, multi-organ autoimmunity and ectodermal dysplasia. Autoantibodies to parathyroid and adrenal glands and type I interferons (IFN) are hallmarks of APS I, which results from mutations in the autoimmune regulator (AIRE) gene. We wished to study clinical,...

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PMID: 19863576
DOI: 10.1111/j.1365-2265.2009.03740.x

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AIRE

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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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