To the top

Page Manager: Webmaster
Last update: 9/11/2012 3:13 PM

Tell a friend about this page
Print version

[APS I--a severe autoimmu… - University of Gothenburg, Sweden Till startsida
To content Read more about how we use cookies on

[APS I--a severe autoimmune disease with endocrine and non-endocrine symptoms]

Review article
Authors Jan Gustafsson
Mohammad Alimohammadi
Olov Ekwall
Gennet Gebre-Medhin
Maria Halldin-Stenlid
Håkan Hedstrand
Eva Landgren
Thomas Nilsson
Fredrik Rorsman
Filip Sköldberg
Ola Winqvist
Olle Kämpe
Published in Läkartidningen
Volume 101
Issue 24
Pages 2096-8, 2101-3
ISSN 0023-7205
Publication year 2004
Published at
Pages 2096-8, 2101-3
Language sv
Keywords 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, Hepatitis, Autoimmune, genetics, immunology, Humans, Hypoparathyroidism, genetics, immunology, Malabsorption Syndromes, genetics, immunology, Polyendocrinopathies, Autoimmune, genetics, immunology, pathology, Vitiligo, genetics, immunology
Subject categories Endocrinology


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.

Page Manager: Webmaster|Last update: 9/11/2012

The University of Gothenburg uses cookies to provide you with the best possible user experience. By continuing on this website, you approve of our use of cookies.  What are cookies?