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Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
Journal
The New England journal of medicine
Volume
358
Number
10
Pages / Article-Number
1018-28
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients with APS-1, the autoantigen responsible for hypoparathyroidism, a hallmark of APS-1 and its most common autoimmune endocrinopathy, has not yet been identified.
