Alimohammadi, M. and Björklund, P. and Hallgren, A. and Pöntynen, N. and Szinnai, G. and Shikama, N. and Keller, M. P. and Ekwall, O. and Kinkel, S. A. and Husebye, E. S. and Gustafsson, J. and Rorsman, F. and Peltonen, L. and Betterle, C. and Perheentupa, J. and Akerström, G. and Westin, G. and Scott, H. S. and Holländer, G. A. and Kämpe, O.. (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. The New England journal of medicine, Vol. 358, H. 10. pp. 1018-1028.
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Official URL: http://edoc.unibas.ch/dok/A6007144
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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.
| Faculties and Departments: | 03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) 03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Children's Hospital > Pediatric Immunology (Holländer) |
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| UniBasel Contributors: | Holländer, Georg and Szinnai, Gabor |
| Item Type: | Article, refereed |
| Article Subtype: | Research Article |
| Publisher: | Massachusetts Medical Society |
| ISSN: | 1533-4406 |
| Note: | Publication type according to Uni Basel Research Database: Journal article |
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| Identification Number: |
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| Last Modified: | 25 Apr 2014 08:00 |
| Deposited On: | 25 Apr 2014 08:00 |
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