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

Direct link
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
2009 (English)In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 265, no 5, 514-529 p.Article in journal (Refereed) Published
Abstract [en]

Autoimmune polyendocrine syndrome type I (APS-I) is a monogenic model disease of autoimmunity. Its hallmarks are chronic mucocutaneous candidosis, hypoparathyroidism and adrenal insufficiency, but many other autoimmune disease components occur less frequently. The first components usually appear in childhood, but may be delayed to adolescence or early adult life. There is enormous variation in presentation and phenotype, which makes the diagnosis difficult. Antibodies against interferon-omega and -alpha have recently been shown to be sensitive and relatively specific markers for APS-I, and mutational analysis of the autoimmune regulator gene gives the diagnosis in >95% of cases. The treatment and follow-up of patients is demanding and requires the collaboration of specialists of several fields. However, the literature is especially sparse regarding information on treatment and follow-up; hence, we present here a comprehensive overview on clinical characteristics, treatment and follow-up based on personal experience and published studies.

Place, publisher, year, edition, pages
2009. Vol. 265, no 5, 514-529 p.
Keyword [en]
Addison's disease, APECED, APS-1, APS-I, autoantibodies, autoimmune, autoimmune regulator, candidosis, hypoparathyroidism, polyglandular
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-106862DOI: 10.1111/j.1365-2796.2009.02090.xISI: 000264959000002PubMedID: 19382991OAI: oai:DiVA.org:uu-106862DiVA: diva2:227016
Available from: 2009-07-08 Created: 2009-07-07 Last updated: 2010-05-19Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Kämpe, Olle
By organisation
Department of Medical Sciences
In the same journal
Journal of Internal Medicine
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 200 hits
ReferencesLink to record
Permanent link

Direct link