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Pituitary autoantib...
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
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- Bensing, Sophie (author)
- Karolinska Institutet,Uppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)
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Fetissov, Serguei (author)
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- Mulder, Jan (author)
- Karolinska Institutet
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Perheentupa, Jaakko (author)
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- Gustafsson, Jan (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnendokrinologisk forskning/Gustafsson
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Husebye, Eystein S. (author)
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- Oscarson, Mikael (author)
- Karolinska Institutet
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- Ekwall, Olov (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Institutionen för kvinnors och barns hälsa,Autoimmuna sjukdomar (Kämpe)
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Crock, Patricia A. (author)
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- Hökfelt, Tomas (author)
- Karolinska Institutet
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- Hulting, Anna-Lena (author)
- Karolinska Institutet
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- Kämpe, Olle (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)
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(creator_code:org_t)
- 2007-01-16
- 2007
- English.
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In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 104:3, s. 949-954
- Related links:
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http://www.pnas.org/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Keyword
- Autoantigens
- Growth hormone deficiency
- Pituitary intermediate lobe
- Tudor domain containing protein 6
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Bensing, Sophie
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Fetissov, Sergue ...
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Mulder, Jan
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Perheentupa, Jaa ...
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Gustafsson, Jan
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Husebye, Eystein ...
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show more...
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Oscarson, Mikael
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Ekwall, Olov
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Crock, Patricia ...
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Hökfelt, Tomas
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Hulting, Anna-Le ...
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Kämpe, Olle
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show less...
- Articles in the publication
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Proceedings of t ...
- By the university
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Uppsala University
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Karolinska Institutet