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Identification of e...
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1
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- Smith-Anttila, Casey J. A. (författare)
- Uppsala universitet,Genetisk utvecklingsbiologi,Univ Newcastle, John Hunter Childrens Hosp, Dept Paediat Endocrinol & Diabet, Newcastle, NSW, Australia.;Univ Newcastle, Fac Hlth & Med, Newcastle, NSW, Australia.;Univ Melbourne, Dept Anat & Neurosci, Melbourne, Vic, Australia.
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- Bensing, Sophie (författare)
- Karolinska Institutet,Uppsala universitet,Autoimmunitet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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- Alimohammadi, Mohammad (författare)
- Uppsala universitet,Dermatologi och venereologi
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- Dalin, Frida, 1984- (författare)
- Uppsala universitet,Dermatologi och venereologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Oscarson, Mikael (författare)
- Karolinska Institutet
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- Zhang, Ming-Dong (författare)
- Karolinska Institutet
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- Perheentupa, Jaakko (författare)
- Helsinki Univ Hosp, Hosp Children & Adolescents, Helsinki, Finland.
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- Husebye, Eystein S. (författare)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway.
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- Gustafsson, Jan, 1948- (författare)
- Uppsala universitet,Barnendokrinologisk forskning,U
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- Björklund, Peyman (författare)
- Uppsala universitet,Experimentell kirurgi
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- Fransson, Anette (författare)
- Karolinska Institutet
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- Nordmark, Gunnel (författare)
- Uppsala universitet,Reumatologi
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- Rönnblom, Lars (författare)
- Uppsala universitet,Reumatologi
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- Meloni, Antonella (författare)
- Univ Cagliari, Dept Biomed Biotechnol Sci, Cagliari, Italy.
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- Scott, Rodney J. (författare)
- Univ Newcastle, Informat Based Med, Hunter Med Res Inst, Newcastle, NSW, Australia.;Univ Newcastle, Sch Biomed Sci, Fac Hlth & Med, Newcastle, NSW, Australia.;Hunter Area Pathol Serv, Div Mol Med, Newcastle, NSW, Australia.
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- Hokfelt, Tomas (författare)
- Karolinska Institutet
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- Crock, Patricia A. (författare)
- Univ Newcastle, John Hunter Childrens Hosp, Dept Paediat Endocrinol & Diabet, Newcastle, NSW, Australia.;Univ Newcastle, Fac Hlth & Med, Newcastle, NSW, Australia.
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- Kämpe, Olle, 1956- (författare)
- Karolinska Institutet,Uppsala universitet,Autoimmunitet,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Hunter Area Pathol Serv, Div Mol Med, Newcastle, NSW, Australia.
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(creator_code:org_t)
- 2017-05-30
- 2017
- Engelska.
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Ingår i: Autoimmunity. - : Informa UK Limited. - 0891-6934 .- 1607-842X. ; 50:4, s. 223-231
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in up to 7% of all APS1 patients, with immunoreactivity to pituitary tissue frequently reported. We aimed to isolate and identify specific pituitary autoantigens in patients with APS1. Immunoscreening of a pituitary cDNA expression library identified endothelin-converting enzyme (ECE)-2 as a potential candidate autoantigen. Immunoreactivity against ECE-2 was detected in 46% APS1 patient sera, with no immunoreactivity detectable in patients with other autoimmune disorders or healthy controls. Quantitative-PCR showed ECE-2 mRNA to be most abundantly expressed in the pancreas with high levels also in the pituitary and brain. In the pancreas ECE-2 was co-expressed with insulin or somatostatin, but not glucagon and was widely expressed in GH producing cells in the guinea pig pituitary. The correlation between immunoreactivity against ECE-2 and the major recognized clinical phenotypes of APS1 including hypopituitarism was not apparent. Our results identify ECE-2 as a specific autoantigen in APS1 with a restricted neuroendocrine distribution.
Ämnesord
- NATURVETENSKAP -- Biologi -- Immunologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Immunology (hsv//eng)
Nyckelord
- APS1
- endothelin-converting enzyme-2
- ECE-2
- pituitary autoantibodies
- pancreas
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Smith-Anttila, C ...
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Bensing, Sophie
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Alimohammadi, Mo ...
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Dalin, Frida, 19 ...
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Oscarson, Mikael
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Zhang, Ming-Dong
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visa fler...
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Perheentupa, Jaa ...
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Husebye, Eystein ...
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Gustafsson, Jan, ...
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Björklund, Peyma ...
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Fransson, Anette
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Nordmark, Gunnel
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Rönnblom, Lars
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Meloni, Antonell ...
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Scott, Rodney J.
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Hokfelt, Tomas
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Crock, Patricia ...
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Kämpe, Olle, 195 ...
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Autoimmunity
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Uppsala universitet
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Karolinska Institutet