uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
Show others and affiliations
2008 (English)In: New England Journal of Medicine, ISSN 0028-4793, E-ISSN 1533-4406, Vol. 358, no 10, 1018-1028 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2008. Vol. 358, no 10, 1018-1028 p.
Keyword [en]
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
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-16569DOI: 10.1056/NEJMoa0706487ISI: 000253644700006PubMedID: 18322283OAI: oai:DiVA.org:uu-16569DiVA: diva2:44340
Available from: 2008-05-28 Created: 2008-05-28 Last updated: 2017-12-08

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Authority records BETA

Björklund, PeymanÅkerström, GöranWestin, GunnarKämpe, Olle

Search in DiVA

By author/editor
Björklund, PeymanÅkerström, GöranWestin, GunnarKämpe, Olle
By organisation
Department of Medical SciencesDepartment of Surgical SciencesDepartment of Women's and Children's Health
In the same journal
New England Journal of Medicine
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 463 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf