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Autoimmune polyendo...
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Alimohammadi, MohammadUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)
(author)
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
- Article/chapterEnglish2008
Publisher, publication year, extent ...
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-16569
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-16569URI
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https://doi.org/10.1056/NEJMoa0706487DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Subject headings and genre
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Autoantibodies/analysis/*blood
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Autoantigens/genetics/*immunology
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Biological Markers/analysis/blood
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DNA; Complementary/analysis
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Gene Library
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Humans
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Hypoparathyroidism/*diagnosis/etiology/immunology
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Parathyroid Glands/chemistry/*immunology
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Polyendocrinopathies; Autoimmune/complications/*immunology
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RNA; Messenger/analysis
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MEDICINE
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MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
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Björklund, PeymanUppsala universitet,Institutionen för kirurgiska vetenskaper(Swepub:uu)pebjo957
(author)
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Hallgren, ÅsaUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)
(author)
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Pöntynen, NoraUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)
(author)
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Szinnai, Gabor
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Shikama, Noriko
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Keller, Marcel P
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Ekwall, OlovUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)(Swepub:uu)olovekwa
(author)
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Kinkel, Sarah A
(author)
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Husebye, Eystein S
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Gustafsson, JanUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnendokrinologisk forskning/ Gustafsson(Swepub:uu)jangfs
(author)
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Rorsman, FredrikUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)(Swepub:uu)fredrikr
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Peltonen, Leena
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Betterle, Corrado
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Perheentupa, Jaakko
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Åkerström, GöranUppsala universitet,Institutionen för kirurgiska vetenskaper,Endokrinkirurgi, Endocrine Surgery(Swepub:uu)goranas
(author)
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Westin, GunnarUppsala universitet,Institutionen för kirurgiska vetenskaper,Endokrinkirurgi, Endocrine Surgery(Swepub:uu)gunnwest
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Scott, Hamish S
(author)
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Holländer, Georg A
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Kämpe, OlleUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)(Swepub:uu)ollekamp
(author)
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Uppsala universitetInstitutionen för medicinska vetenskaper
(creator_code:org_t)
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In:New England Journal of Medicine358:10, s. 1018-10280028-47931533-4406
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