Autoimmune stigmata in Turner syndrome: When lacks an X chromosome
Abstract 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 au...
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| Veröffentlicht in: | Journal of autoimmunity 2009-08, Vol.33 (1), p.25-30 |
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| creator | Larizza, Daniela Calcaterra, Valeria Martinetti, Miryam |
| description | Abstract 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. |
| doi_str_mv | 10.1016/j.jaut.2009.03.002 |
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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.</description><identifier>ISSN: 0896-8411</identifier><identifier>EISSN: 1095-9157</identifier><identifier>DOI: 10.1016/j.jaut.2009.03.002</identifier><identifier>PMID: 19349146</identifier><language>eng</language><publisher>Kidlington: Elsevier Ltd</publisher><subject>Allergy and Immunology ; Autoantibodies ; Autoimmune diseases ; Autoimmune Diseases - etiology ; Autoimmunity ; Biological and medical sciences ; Chromosome Aberrations ; Chromosomes, Human, X ; Epistasis ; Epistasis, Genetic - immunology ; Female ; Fundamental and applied biological sciences. Psychology ; Fundamental immunology ; Genes, MHC Class II ; Genetic Testing ; Gynecology. Andrology. Obstetrics ; Humans ; Immune response ; Immunogenetic Phenomena ; Immunogenetics ; Inflammatory bowel diseases ; Karyotypes ; Life span ; Major histocompatibility complex ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; Risk Factors ; Thyroid ; Turner syndrome ; Turner Syndrome - complications ; Turner Syndrome - genetics ; Turner Syndrome - immunology ; Turner Syndrome - pathology ; Turner Syndrome - physiopathology ; Turner's syndrome ; X chromosome</subject><ispartof>Journal of autoimmunity, 2009-08, Vol.33 (1), p.25-30</ispartof><rights>Elsevier Ltd</rights><rights>2009 Elsevier Ltd</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-444f8732caa9913e75e5a029258bd5fef369c137772e2e4a93e45c7c7822bcc43</citedby><cites>FETCH-LOGICAL-c471t-444f8732caa9913e75e5a029258bd5fef369c137772e2e4a93e45c7c7822bcc43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0896841109000468$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21630654$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19349146$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Larizza, Daniela</creatorcontrib><creatorcontrib>Calcaterra, Valeria</creatorcontrib><creatorcontrib>Martinetti, Miryam</creatorcontrib><title>Autoimmune stigmata in Turner syndrome: When lacks an X chromosome</title><title>Journal of autoimmunity</title><addtitle>J Autoimmun</addtitle><description>Abstract 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.</description><subject>Allergy and Immunology</subject><subject>Autoantibodies</subject><subject>Autoimmune diseases</subject><subject>Autoimmune Diseases - etiology</subject><subject>Autoimmunity</subject><subject>Biological and medical sciences</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, X</subject><subject>Epistasis</subject><subject>Epistasis, Genetic - immunology</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Fundamental immunology</subject><subject>Genes, MHC Class II</subject><subject>Genetic Testing</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Immune response</subject><subject>Immunogenetic Phenomena</subject><subject>Immunogenetics</subject><subject>Inflammatory bowel diseases</subject><subject>Karyotypes</subject><subject>Life span</subject><subject>Major histocompatibility complex</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>Risk Factors</subject><subject>Thyroid</subject><subject>Turner syndrome</subject><subject>Turner Syndrome - complications</subject><subject>Turner Syndrome - genetics</subject><subject>Turner Syndrome - immunology</subject><subject>Turner Syndrome - pathology</subject><subject>Turner Syndrome - physiopathology</subject><subject>Turner's syndrome</subject><subject>X chromosome</subject><issn>0896-8411</issn><issn>1095-9157</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kk1v1DAQhi1ERZfCH-CAcoGeko6_4hghpLYCWqkSB4rgZnmdCXWaOMVOkPbf42hXIHHoyZL9vGP7mSHkFYWKAq3P-qq3y1wxAF0BrwDYE7KhoGWpqVRPyQYaXZeNoPSYPE-pB6BUSvmMHFPNhaai3pCL82We_DguAYs0-5-jnW3hQ3G7xICxSLvQxmnEd8X3OwzFYN19KmwofhTuLu9PKZ-9IEedHRK-PKwn5Nunj7eXV-XNl8_Xl-c3pROKzqUQomsUZ85arSlHJVFaYJrJZtvKDjtea0e5UoohQ2E1RyGdcqphbOuc4CfkdF_3IU6_FkyzGX1yOAw24LQkozhnVAsuM_n2UZKBEg2rVQbZHnRxSiliZx6iH23cGQpmdWx6szo2q2MD3GTHOfT6UH3Zjtj-ixykZuDNAbDJ2aGLNjif_nKM1hxquX7o_Z7DbO23x2iS8xgctj6im007-cff8eG_uBt88PnGe9xh6qfcwtwPQ01iBszXdRrWYQANAKJu-B-kGa2j</recordid><startdate>20090801</startdate><enddate>20090801</enddate><creator>Larizza, Daniela</creator><creator>Calcaterra, Valeria</creator><creator>Martinetti, Miryam</creator><general>Elsevier Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20090801</creationdate><title>Autoimmune stigmata in Turner syndrome: When lacks an X chromosome</title><author>Larizza, Daniela ; Calcaterra, Valeria ; Martinetti, Miryam</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-444f8732caa9913e75e5a029258bd5fef369c137772e2e4a93e45c7c7822bcc43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Allergy and Immunology</topic><topic>Autoantibodies</topic><topic>Autoimmune diseases</topic><topic>Autoimmune Diseases - etiology</topic><topic>Autoimmunity</topic><topic>Biological and medical sciences</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, X</topic><topic>Epistasis</topic><topic>Epistasis, Genetic - immunology</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Fundamental immunology</topic><topic>Genes, MHC Class II</topic><topic>Genetic Testing</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Immune response</topic><topic>Immunogenetic Phenomena</topic><topic>Immunogenetics</topic><topic>Inflammatory bowel diseases</topic><topic>Karyotypes</topic><topic>Life span</topic><topic>Major histocompatibility complex</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>Risk Factors</topic><topic>Thyroid</topic><topic>Turner syndrome</topic><topic>Turner Syndrome - complications</topic><topic>Turner Syndrome - genetics</topic><topic>Turner Syndrome - immunology</topic><topic>Turner Syndrome - pathology</topic><topic>Turner Syndrome - physiopathology</topic><topic>Turner's syndrome</topic><topic>X chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Larizza, Daniela</creatorcontrib><creatorcontrib>Calcaterra, Valeria</creatorcontrib><creatorcontrib>Martinetti, Miryam</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of autoimmunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Larizza, Daniela</au><au>Calcaterra, Valeria</au><au>Martinetti, Miryam</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autoimmune stigmata in Turner syndrome: When lacks an X chromosome</atitle><jtitle>Journal of autoimmunity</jtitle><addtitle>J Autoimmun</addtitle><date>2009-08-01</date><risdate>2009</risdate><volume>33</volume><issue>1</issue><spage>25</spage><epage>30</epage><pages>25-30</pages><issn>0896-8411</issn><eissn>1095-9157</eissn><abstract>Abstract 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.</abstract><cop>Kidlington</cop><pub>Elsevier Ltd</pub><pmid>19349146</pmid><doi>10.1016/j.jaut.2009.03.002</doi><tpages>6</tpages></addata></record> |
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| subjects | Allergy and Immunology Autoantibodies Autoimmune diseases Autoimmune Diseases - etiology Autoimmunity Biological and medical sciences Chromosome Aberrations Chromosomes, Human, X Epistasis Epistasis, Genetic - immunology Female Fundamental and applied biological sciences. Psychology Fundamental immunology Genes, MHC Class II Genetic Testing Gynecology. Andrology. Obstetrics Humans Immune response Immunogenetic Phenomena Immunogenetics Inflammatory bowel diseases Karyotypes Life span Major histocompatibility complex Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Risk Factors Thyroid Turner syndrome Turner Syndrome - complications Turner Syndrome - genetics Turner Syndrome - immunology Turner Syndrome - pathology Turner Syndrome - physiopathology Turner's syndrome X chromosome |
| title | Autoimmune stigmata in Turner syndrome: When lacks an X chromosome |
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