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Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.

Journal article
Authors Mohammad Alimohammadi
Peyman Björklund
Asa Hallgren
Nora Pöntynen
Gabor Szinnai
Noriko Shikama
Marcel P Keller
Olov Ekwall
Sarah A Kinkel
Eystein S Husebye
Jan Gustafsson
Fredrik Rorsman
Leena Peltonen
Corrado Betterle
Jaakko Perheentupa
Göran Akerström
Gunnar Westin
Hamish S Scott
Georg A Holländer
Olle Kämpe
Published in The New England journal of medicine
Volume 358
Issue 10
Pages 1018-28
ISSN 1533-4406
Publication year 2008
Published at
Pages 1018-28
Language en
Keywords Autoantibodies, analysis, blood, Autoantigens, genetics, immunology, Biological Markers, analysis, blood, DNA, Complementary, analysis, Gene Library, Humans, Hypoparathyroidism, diagnosis, etiology, immunology, Parathyroid Glands, chemistry, immunology, Polyendocrinopathies, Autoimmune, complications, immunology, RNA, Messenger, analysis
Subject categories Clinical immunology, Endocrinology

Abstract

BACKGROUND: 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. METHODS: We performed immunoscreening of a human parathyroid complementary DNA library, using serum samples from patients with APS-1 and hypoparathyroidism, to identify patients with reactivity to the NACHT leucine-rich-repeat protein 5 (NALP5). Subsequently, serum samples from 87 patients with APS-1 and 293 controls, including patients with other autoimmune disorders, were used to determine the frequency and specificity of autoantibodies against NALP5. In addition, the expression of NALP5 was investigated in various tissues. RESULTS: NALP5-specific autoantibodies were detected in 49% of the patients with APS-1 and hypoparathyroidism but were absent in all patients with APS-1 but without hypoparathyroidism, in all patients with other autoimmune endocrine disorders, and in all healthy controls. NALP5 was predominantly expressed in the cytoplasm of parathyroid chief cells. CONCLUSIONS: NALP5 appears to be a tissue-specific autoantigen involved in hypoparathyroidism in patients with APS-1. Autoantibodies against NALP5 appear to be highly specific and may be diagnostic for this prominent component of APS-1.

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