Document Detail

TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus.
MedLine Citation:
PMID:  21198756     Owner:  NLM     Status:  MEDLINE    
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High-titre autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in approximately 7% of APS1 patients, with immunoreactivity to pituitary tissue frequently described. Using APS1 patient serum to immunoscreen a pituitary cDNA expression library, testis specific, 10 (TSGA10) was isolated. Immunoreactivity against TSGA10 was detected in 5/99 (5.05%) patients with APS1, but also in 5/135 (3.70%) systemic lupus erythematosus (SLE) patients and 1/188 (0.53%) healthy controls. TSGA10 autoantibodies were not detected in the serum from patients with any other autoimmune disease. Autoantibodies against TSGA10 were detectable from a young age in 4/5 positive APS1 patients with autoantibody titres remaining relatively constant over time. Furthermore, real-time PCR confirmed TSGA10 mRNA to be most abundantly expressed in the testis and also showed moderate and low expression levels throughout the entire body. TSGA10 should be considered as an autoantigen in a subset of APS1 patients and also in a minority of SLE patients. No recognizable clinical phenotype could be found to correlate with positive autoantibody reactivity.
C J A Smith; M Oscarson; L Rönnblom; M Alimohammadi; J Perheentupa; E S Husebye; J Gustafsson; G Nordmark; A Meloni; P A Crock; O Kämpe; S Bensing
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Scandinavian journal of immunology     Volume:  73     ISSN:  1365-3083     ISO Abbreviation:  Scand. J. Immunol.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-04     Completed Date:  2011-01-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0323767     Medline TA:  Scand J Immunol     Country:  England    
Other Details:
Languages:  eng     Pagination:  147-53     Citation Subset:  IM    
Copyright Information:
© 2011 The Authors. Scandinavian Journal of Immunology © 2011 Blackwell Publishing Ltd.
Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
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MeSH Terms
Autoantibodies / immunology*
Gene Expression Regulation
Lupus Erythematosus, Systemic / genetics,  immunology*
Polyendocrinopathies, Autoimmune / genetics,  immunology
Proteins / genetics,  immunology*
RNA, Messenger / genetics
Reg. No./Substance:
0/Autoantibodies; 0/Proteins; 0/RNA, Messenger; 0/TSGA10 protein, human

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