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NALP5 - a Target for Autoantibodies in AIRE Deficient Mice Reflecting the Autoimmune Status
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))
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(English)Manuscript (Other academic)
Identifiers
URN: urn:nbn:se:uu:diva-98039OAI: oai:DiVA.org:uu-98039DiVA: diva2:173203
Available from: 2009-02-11 Created: 2009-02-11 Last updated: 2010-05-06Bibliographically approved
In thesis
1. Molecular Targets in Autoimmune Polyendocrine Syndrome Type1 and Their Clinical Implications
Open this publication in new window or tab >>Molecular Targets in Autoimmune Polyendocrine Syndrome Type1 and Their Clinical Implications
2009 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Autoimmune diseases occur when the immune system attacks and destroys healthy body tissue. Autoimmunity is known to cause a wide range of disorders, and is suspected to be responsible for many more. Most autoimmune disorders are chronic and cause severe morbidity for the patients, and are also costly for society. A majority of these disorders are today considered as complex diseases with incompletely known etiology. Hence, model systems for studying the pathogenesis of autoimmunity are important to unravel its causes.

Autoimmune Polyendocrine Syndrome Type 1 (APS-1), (OMIM 240300), is a rare autoimmune disorder. Patients with APS-1 progressively develop multiple organ-specific autoimmune lesions involving both endocrine and non endocrine tissues. Typical autoimmune disease components in APS-1 are hypoparathyroidism, Addison’s disease, vitiligo, alopecia and type 1 diabetes. The gene preventing APS-1 has been identified and designated Autoimmune Regulator (AIRE). It has been shown that mutations of AIRE cause loss of tolerance to self-structures, resulting in organ-specific autoimmunity.

Although APS-1 is a rare syndrome occurring mainly in genetically isolated populations, the disease components of APS-1 are, in isolated forms, not unusual in the general population and affect many patients. Hence, APS-1 is an attractive model disease for studies of molecular mechanisms underlying organ-specific autoimmunity.

This thesis concerns investigations in which two novel autoantigens are identified in APS-1 and used in serological diagnosis of the disease. NALP5, is identified as a parathyroid autoantigen - an important finding since autoimmune hypoparathyroidism is one of the cardinal symptoms of APS-1. Additionally, KCNRG is identified as a bronchial autoantigen in APS-1 patients with respiratory symptoms. Finally, studies that compare the immune response in APS-1 patients and the mouse model for APS-1 are presented.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2009. 59 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 417
Keyword
autoimmunity, autoantibodies, endocrinology, parathyroid, hypoparathyroidism, Addison's disease, pulmonary symptoms, NALP, NALP5, NLR, KCNRG
National Category
Cell and Molecular Biology
Identifiers
urn:nbn:se:uu:diva-9549 (URN)978-91-554-7403-4 (ISBN)
Public defence
2009-03-05, Enghoffsalen, Enterence 50, Akademiska Sjukhuset, Uppsala University Hospital, SE75185, 09:15 (English)
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Available from: 2009-02-11 Created: 2009-02-11 Last updated: 2009-04-17Bibliographically approved

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