Article
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
European journal of endocrinology - 1 Nov 2008
Podkrajsek Katarina Trebusak, Milenković Tatjana, Odink Roelof J, Claasen-van der Grinten Hedi L, Bratanic Nina, Hovnik Tinka, Battelino Tadej
Abstract excerpt
OBJECTIVE: Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis. DESIGN: AIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation. METHODS: Sequencing and TaqMan genotyping...
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