46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE
Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the...
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| Veröffentlicht in: | Genes and immunity 2009-07, Vol.10 (5), p.478-481 |
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| creator | Cooney, C M Bruner, G R Aberle, T Namjou-Khales, B Myers, L K Feo, L Li, S D'Souza, A Ramirez, A Harley, J B Scofield, R H |
| description | Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE. |
| doi_str_mv | 10.1038/gene.2009.37 |
| format | Article |
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Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/gene.2009.37</identifier><identifier>PMID: 19458623</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adolescent ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Case reports ; Chromosomes, Human, X ; Complications and side effects ; Female ; Gene Expression ; Genetic aspects ; Health aspects ; Human Genetics ; Humans ; Immunology ; Klinefelter's syndrome ; Lupus ; Lupus Erythematosus, Systemic - genetics ; original-article ; Physiological aspects ; Risk factors ; Systemic lupus erythematosus ; Turner syndrome ; Turner Syndrome - genetics ; Turner's syndrome ; Women ; X chromosome ; X chromosomes</subject><ispartof>Genes and immunity, 2009-07, Vol.10 (5), p.478-481</ispartof><rights>Macmillan Publishers Limited 2009</rights><rights>COPYRIGHT 2009 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jul 2009</rights><rights>Macmillan Publishers Limited 2009.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c521t-3917bbe08179e09398adac03ca5f85997daeb4e3738157e57c16b3cf2800b19b3</citedby><cites>FETCH-LOGICAL-c521t-3917bbe08179e09398adac03ca5f85997daeb4e3738157e57c16b3cf2800b19b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/gene.2009.37$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/gene.2009.37$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51298</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19458623$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cooney, C M</creatorcontrib><creatorcontrib>Bruner, G R</creatorcontrib><creatorcontrib>Aberle, T</creatorcontrib><creatorcontrib>Namjou-Khales, B</creatorcontrib><creatorcontrib>Myers, L K</creatorcontrib><creatorcontrib>Feo, L</creatorcontrib><creatorcontrib>Li, S</creatorcontrib><creatorcontrib>D'Souza, A</creatorcontrib><creatorcontrib>Ramirez, A</creatorcontrib><creatorcontrib>Harley, J B</creatorcontrib><creatorcontrib>Scofield, R H</creatorcontrib><title>46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE.</description><subject>Adolescent</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Case reports</subject><subject>Chromosomes, Human, X</subject><subject>Complications and side effects</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genetic aspects</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Immunology</subject><subject>Klinefelter's syndrome</subject><subject>Lupus</subject><subject>Lupus Erythematosus, Systemic - genetics</subject><subject>original-article</subject><subject>Physiological aspects</subject><subject>Risk factors</subject><subject>Systemic lupus erythematosus</subject><subject>Turner syndrome</subject><subject>Turner Syndrome - genetics</subject><subject>Turner's syndrome</subject><subject>Women</subject><subject>X chromosome</subject><subject>X chromosomes</subject><issn>1466-4879</issn><issn>1476-5470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1kttr2zAUxsXYWLtsb3seYoO1gTiTLOv2WEq3FQKDtYO-Cdk-Th18qyTT5r-f3ARCRodAl6PfOTqf-BD6SMmSEqa-raGDZUqIXjL5Cp3STIqEZ5K8nvZCJJmS-gS9835DCBVU6LfohOqMK5GyU7TJxOJuUUJzfjc_f6Bsjm9H14E789hvu9L1LeDHOHX4sQ73MeYDtHWBm3EYPQa3DffQ2tD7eKo7bPEAZb12ALgdm1APDTzhqnf4ZnX1Hr2pbOPhw36doT_fr24vfyarXz-uLy9WScFTGhKmqcxzIIpKDUQzrWxpC8IKyyvFtZalhTwDJpmiXAKXBRU5K6pUEZJTnbMZ-rqrO7j-YQQfTFv7AprGdtCP3gjJiVYxf4a-_ANu-ig-9mZSkVE5daIi9fm_FFWaCiHTQ6m1bcDUXdUHZ4vpXXOREp4KxQWN1PIFKo5y-tO-g6qO8aOE-VFCZAI8hbUdvTfXN7-P2cWOLVzvvYPKDK5urdsaSszkFDM5xUxOMc_iP-1ljXkL5QHeWyMCyQ7w8apbgzvofrHgX-ZmxBY</recordid><startdate>20090701</startdate><enddate>20090701</enddate><creator>Cooney, C M</creator><creator>Bruner, G R</creator><creator>Aberle, T</creator><creator>Namjou-Khales, B</creator><creator>Myers, L K</creator><creator>Feo, L</creator><creator>Li, S</creator><creator>D'Souza, A</creator><creator>Ramirez, A</creator><creator>Harley, J B</creator><creator>Scofield, R H</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><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>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20090701</creationdate><title>46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE</title><author>Cooney, C M ; Bruner, G R ; Aberle, T ; Namjou-Khales, B ; Myers, L K ; Feo, L ; Li, S ; D'Souza, A ; Ramirez, A ; Harley, J B ; Scofield, R H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c521t-3917bbe08179e09398adac03ca5f85997daeb4e3738157e57c16b3cf2800b19b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Case reports</topic><topic>Chromosomes, Human, X</topic><topic>Complications and side effects</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Genetic aspects</topic><topic>Health aspects</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Immunology</topic><topic>Klinefelter's syndrome</topic><topic>Lupus</topic><topic>Lupus Erythematosus, Systemic - genetics</topic><topic>original-article</topic><topic>Physiological aspects</topic><topic>Risk factors</topic><topic>Systemic lupus erythematosus</topic><topic>Turner syndrome</topic><topic>Turner Syndrome - genetics</topic><topic>Turner's syndrome</topic><topic>Women</topic><topic>X chromosome</topic><topic>X chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cooney, C M</creatorcontrib><creatorcontrib>Bruner, G R</creatorcontrib><creatorcontrib>Aberle, T</creatorcontrib><creatorcontrib>Namjou-Khales, B</creatorcontrib><creatorcontrib>Myers, L K</creatorcontrib><creatorcontrib>Feo, L</creatorcontrib><creatorcontrib>Li, S</creatorcontrib><creatorcontrib>D'Souza, A</creatorcontrib><creatorcontrib>Ramirez, A</creatorcontrib><creatorcontrib>Harley, J B</creatorcontrib><creatorcontrib>Scofield, R H</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cooney, C M</au><au>Bruner, G R</au><au>Aberle, T</au><au>Namjou-Khales, B</au><au>Myers, L K</au><au>Feo, L</au><au>Li, S</au><au>D'Souza, A</au><au>Ramirez, A</au><au>Harley, J B</au><au>Scofield, R H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2009-07-01</date><risdate>2009</risdate><volume>10</volume><issue>5</issue><spage>478</spage><epage>481</epage><pages>478-481</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>19458623</pmid><doi>10.1038/gene.2009.37</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Biomedical and Life Sciences Biomedicine Cancer Research Case reports Chromosomes, Human, X Complications and side effects Female Gene Expression Genetic aspects Health aspects Human Genetics Humans Immunology Klinefelter's syndrome Lupus Lupus Erythematosus, Systemic - genetics original-article Physiological aspects Risk factors Systemic lupus erythematosus Turner syndrome Turner Syndrome - genetics Turner's syndrome Women X chromosome X chromosomes |
| title | 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE |
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