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Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

Journal article
Authors Annika Söderbergh
Anne Grethe Myhre
Olov Ekwall
Gennet Gebre-Medhin
Håkan Hedstrand
Eva Landgren
Aaro Miettinen
Petra Eskelin
Maria Halonen
Tiinamaija Tuomi
Jan Gustafsson
Eystein S Husebye
Jaakko Perheentupa
Mikhail Gylling
Michael P Manns
Fredrik Rorsman
Olle Kämpe
Thomas Nilsson
Published in The Journal of clinical endocrinology and metabolism
Volume 89
Issue 2
Pages 557-62
ISSN 0021-972X
Publication year 2004
Published at
Pages 557-62
Language en
Keywords Adolescent, Adult, Autoantibodies, analysis, Autoantigens, immunology, Biological Markers, Child, Child, Preschool, Cohort Studies, Enzymes, immunology, Female, Humans, Male, Middle Aged, Multivariate Analysis, Polyendocrinopathies, Autoimmune, complications, immunology
Subject categories Endocrinology


The prevalence of autoantibodies against nine intracellular enzyme autoantigens, namely 21-hydroxylase, side-chain cleavage enzyme (SCC), 17 alpha-hydroxylase, glutamic acid decarboxylase 65, aromatic L-amino acid decarboxylase, tyrosine phosphatase-like protein IA-2, tryptophan hydroxylase (TPH), tyrosine hydroxylase, cytochrome P450 1A2, and against the extracellular calcium-sensing receptor, was assessed in 90 patients with autoimmune polyendocrine syndrome type I. A multivariate logistic regression analysis was performed for the presence of autoantibodies as independent predictors for different disease manifestations. Reactivities against 21-hydroxylase and SCC were associated with Addison's disease with odds ratios (ORs) of 7.8 and 6.8, respectively. Hypogonadism was exclusively associated with autoantibodies against SCC with an OR of 12.5. Autoantibodies against tyrosine phosphatase-like protein IA-2 were associated with insulin-dependent diabetes mellitus with an OR of 14.9, but with low sensitivity. Reactivities against TPH and, surprisingly, glutamic acid decarboxylase 65, were associated with intestinal dysfunction, with ORs of 3.9 and 6.7, respectively. TPH reactivity was the best predictor for autoimmune hepatitis, with an OR of 27.0. Hypoparathyroidism was not associated with reactivity against any of the autoantigens tested. No reactivity against the calcium-sensing receptor was found. Analysis of autoantibodies in autoimmune polyendocrine syndrome type I patients is a useful tool for establishing autoimmune manifestations of the disease as well as providing diagnosis in patients with suspected disease.

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