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Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Autoimmuna sjukdomar (Kämpe))
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2007 (English)In: Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, E-ISSN 1091-6490, Vol. 104, no 3, 949-954 p.Article in journal (Refereed) Published
Abstract [en]

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies (Aabs) toward intracellular enzymes are a hallmark for APS1 and serve as diagnostic markers and predictors for disease manifestations. In this study, we aimed to identify pituitary autoantigens in patients with APS1. A pituitary cDNA expression library was screened with APS1 sera and a tudor domain containing protein 6 (TDRD6) cDNA clone was isolated. Positive immunoreactivity against in vitro translated TDRD6 fragments was shown in 42/86 (49%) APS1 patients but not in patients with other autoimmune diseases or in healthy controls. By using immunohistochemistry, sera from 3/6 APS1 patients with growth hormone (GH) deficiency showed immunostaining of a small number of guinea pig anterior pituitary cells, and 40-50% of these cells were GH-positive. No such immunostaining was seen with sera from healthy controls. The APS1 Aab-positive, GH-negative cells may represent a novel subpopulation of anterior pituitary cells. In addition, 4/6 patient sera showed staining of a fiber-plexus in the pituitary intermediate lobe recognizing enzymes of monoamine and GABA synthesis. Thus, we have identified TDRD6 as a major autoantigen in APS1 patients and shown that several sera from GH-deficient patients stain specific cell populations and nerves in the pituitary gland.

Place, publisher, year, edition, pages
2007. Vol. 104, no 3, 949-954 p.
Keyword [en]
Autoantigens, Growth hormone deficiency, Pituitary intermediate lobe, Tudor domain containing protein 6
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-11004DOI: 10.1073/pnas.0610070104ISI: 000243761100049PubMedID: 17215373OAI: oai:DiVA.org:uu-11004DiVA: diva2:38772
Available from: 2008-06-11 Created: 2008-06-11 Last updated: 2011-02-16Bibliographically approved

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Bensing, SophieGustafsson, JanEkwall, OlovKämpe, Olle
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Department of Medical SciencesDepartment of Women's and Children's Health
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