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 hallmark...
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