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APSI - svår autoimmun sjukdom med endokrina och icke-endokrina symtom
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical 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))
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
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2004 (Swedish)In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518, Vol. 101, no 24, 2096-2103 p.Article in journal (Refereed) Published
Abstract [en]

Autoimmune polyglandular syndrome type I (APS I) is an autosomal recessive disorder characterized by a combination of autoimmune manifestations affecting endocrine and non-endocrine organs. APS I usually presents in childhood. The three most common manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. At least two of these must be present to fulfill the diagnostic criteria of this syndrome. The spectrum of other associated diseases includes gonadal insufficiency, alopecia, vitiligo and chronic active hepatitis. APS I is caused by a mutation in the AIRE-gene (autoimmune regulator) located on chromosome 21. Analysis of specific autoantibodies against intracellular enzymes, particularly enzymes in the synthesis of steroids and neurotransmittors, can be used in the diagnosis of APS I and to predict different manifestations of the disease.

Place, publisher, year, edition, pages
2004. Vol. 101, no 24, 2096-2103 p.
Keyword [en]
Addison Disease/genetics/immunology, Adrenal Insufficiency/genetics/immunology, Adult, Alopecia/genetics/immunology/pathology, Autoantibodies/genetics, Candidiasis; Chronic Mucocutaneous/genetics/immunology, Child, Chromosomes; Human; Pair 21/genetics, Diabetes Mellitus; Type 1/genetics/immunology, English Abstract, Hepatitis; Autoimmune/genetics/immunology, Humans, Hypoparathyroidism/genetics/immunology, Malabsorption Syndromes/genetics/immunology, Polyendocrinopathies; Autoimmune/genetics/immunology/pathology, Vitiligo/genetics/immunology
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-77536PubMedID: 15282984OAI: oai:DiVA.org:uu-77536DiVA: diva2:105448
Available from: 2007-03-12 Created: 2007-03-12 Last updated: 2017-12-14Bibliographically approved

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Ekwall, OlovHedstrand, HåkanRorsman, FredrikWinqvist, OlaKämpe, Olle

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