Document Detail

Autoimmune stigmata in Turner syndrome: when lacks an X chromosome.
MedLine Citation:
PMID:  19349146     Owner:  NLM     Status:  MEDLINE    
An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in patients with Turner syndrome; the most common autoimmune diseases appear to be thyroid autoimmune disease and inflammatory bowel diseases. Turner patients evolve towards autoimmunity much more frequently than people with normal karyotype without any relevant excess of the putative immunogenetic risk markers. That underscores the great influence of X-chromosome abnormalities in the development of autoimmune disorders and suggests an epistatic interaction of X genes with immune response genes. Interestingly, one of the human MHC-paralogues is located in the long arm of the X chromosome, so that who is defective in this region might be less efficient to control the pathogenic repertoire during the lifespan. Medical care for patients with TS should routinely include screening for the autoimmune disorders in order to assure early detection and appropriate treatment.
Daniela Larizza; Valeria Calcaterra; Miryam Martinetti
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Publication Detail:
Type:  Journal Article     Date:  2009-04-05
Journal Detail:
Title:  Journal of autoimmunity     Volume:  33     ISSN:  1095-9157     ISO Abbreviation:  J. Autoimmun.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-06-01     Completed Date:  2009-12-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8812164     Medline TA:  J Autoimmun     Country:  England    
Other Details:
Languages:  eng     Pagination:  25-30     Citation Subset:  IM    
Department of Pediatric Sciences, University of Pavia, Foundation IRCCS Policlinico San Matteo, Pavia, Italy.
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MeSH Terms
Autoimmune Diseases / etiology
Chromosome Aberrations
Chromosomes, Human, X*
Epistasis, Genetic / immunology*
Genes, MHC Class II*
Genetic Testing
Immunogenetic Phenomena
Risk Factors
Turner Syndrome / complications,  genetics*,  immunology*,  pathology,  physiopathology
Reg. No./Substance:

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