The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients
Abstract Turner Syndrome patients have an absent second sex chromosome and a predisposition to autoimmune disease. We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of...
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| Veröffentlicht in: | Clinical immunology (Orlando, Fla.) Fla.), 2009-04, Vol.131 (1), p.139-144 |
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| creator | Su, Maureen A Stenerson, Matthew Liu, Weihong Putnam, Amy Conte, Felix Bluestone, Jeffrey A Anderson, Mark S |
| description | Abstract Turner Syndrome patients have an absent second sex chromosome and a predisposition to autoimmune disease. We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of regulatory T cells, and complete loss of FOXP3 expression has been shown to result in severe autoimmunity. To test this hypothesis, we characterized the regulatory T cells and performed immunophenotyping on the peripheral blood leukocytes of a cohort of Turner Syndrome patients. These patients retained regulatory T cell frequency and function despite an increased prevalence of autoimmunity. Immunophenotyping revealed a decrease in the ratio of CD4 to CD8 lymphocytes. These findings suggest that the autoimmune predisposition in Turner Syndrome is not due to alterations in regulatory T cells but may be associated with a change in the proportion of T cell subsets. |
| doi_str_mv | 10.1016/j.clim.2008.11.007 |
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We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of regulatory T cells, and complete loss of FOXP3 expression has been shown to result in severe autoimmunity. To test this hypothesis, we characterized the regulatory T cells and performed immunophenotyping on the peripheral blood leukocytes of a cohort of Turner Syndrome patients. These patients retained regulatory T cell frequency and function despite an increased prevalence of autoimmunity. Immunophenotyping revealed a decrease in the ratio of CD4 to CD8 lymphocytes. These findings suggest that the autoimmune predisposition in Turner Syndrome is not due to alterations in regulatory T cells but may be associated with a change in the proportion of T cell subsets.</description><identifier>ISSN: 1521-6616</identifier><identifier>EISSN: 1521-7035</identifier><identifier>DOI: 10.1016/j.clim.2008.11.007</identifier><identifier>PMID: 19150256</identifier><identifier>CODEN: CLIIFY</identifier><language>eng</language><publisher>Amsterdam: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Allergy and Immunology ; Autoimmune Diseases - genetics ; Autoimmune Diseases - immunology ; Autoimmunity ; Autoimmunity - genetics ; Autoimmunity - immunology ; Biological and medical sciences ; Case-Control Studies ; CD4-CD8 Ratio ; Child ; Chromosomes, Human, X ; Female ; Flow Cytometry ; Forkhead Transcription Factors - biosynthesis ; Forkhead Transcription Factors - genetics ; Forkhead Transcription Factors - immunology ; FOXP3 ; Fundamental and applied biological sciences. Psychology ; Fundamental immunology ; Gynecology. Andrology. Obstetrics ; Humans ; Immunophenotyping - methods ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; Middle Aged ; Regulatory T cells ; T-Lymphocytes - immunology ; T-Lymphocytes, Regulatory - immunology ; Turner Syndrome ; Turner Syndrome - genetics ; Turner Syndrome - immunology ; Young Adult</subject><ispartof>Clinical immunology (Orlando, Fla.), 2009-04, Vol.131 (1), p.139-144</ispartof><rights>Elsevier Inc.</rights><rights>2008 Elsevier Inc.</rights><rights>2009 INIST-CNRS</rights><rights>2008 Elsevier Inc. All rights reserved. 2008</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c635t-e38566de163fd1b5a923b6d440fc5199cf08e3ed660595df497210f10cbe07643</citedby><cites>FETCH-LOGICAL-c635t-e38566de163fd1b5a923b6d440fc5199cf08e3ed660595df497210f10cbe07643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1521661608009133$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21378408$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19150256$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Su, Maureen A</creatorcontrib><creatorcontrib>Stenerson, Matthew</creatorcontrib><creatorcontrib>Liu, Weihong</creatorcontrib><creatorcontrib>Putnam, Amy</creatorcontrib><creatorcontrib>Conte, Felix</creatorcontrib><creatorcontrib>Bluestone, Jeffrey A</creatorcontrib><creatorcontrib>Anderson, Mark S</creatorcontrib><title>The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients</title><title>Clinical immunology (Orlando, Fla.)</title><addtitle>Clin Immunol</addtitle><description>Abstract Turner Syndrome patients have an absent second sex chromosome and a predisposition to autoimmune disease. We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of regulatory T cells, and complete loss of FOXP3 expression has been shown to result in severe autoimmunity. To test this hypothesis, we characterized the regulatory T cells and performed immunophenotyping on the peripheral blood leukocytes of a cohort of Turner Syndrome patients. These patients retained regulatory T cell frequency and function despite an increased prevalence of autoimmunity. Immunophenotyping revealed a decrease in the ratio of CD4 to CD8 lymphocytes. These findings suggest that the autoimmune predisposition in Turner Syndrome is not due to alterations in regulatory T cells but may be associated with a change in the proportion of T cell subsets.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Allergy and Immunology</subject><subject>Autoimmune Diseases - genetics</subject><subject>Autoimmune Diseases - immunology</subject><subject>Autoimmunity</subject><subject>Autoimmunity - genetics</subject><subject>Autoimmunity - immunology</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>CD4-CD8 Ratio</subject><subject>Child</subject><subject>Chromosomes, Human, X</subject><subject>Female</subject><subject>Flow Cytometry</subject><subject>Forkhead Transcription Factors - biosynthesis</subject><subject>Forkhead Transcription Factors - genetics</subject><subject>Forkhead Transcription Factors - immunology</subject><subject>FOXP3</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Fundamental immunology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Immunophenotyping - methods</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Regulatory T cells</subject><subject>T-Lymphocytes - immunology</subject><subject>T-Lymphocytes, Regulatory - immunology</subject><subject>Turner Syndrome</subject><subject>Turner Syndrome - genetics</subject><subject>Turner Syndrome - immunology</subject><subject>Young Adult</subject><issn>1521-6616</issn><issn>1521-7035</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kt1r1TAUwIsobk7_AR-kL_rWek7SpC3IQIZTYTBhV9xbSNNTl7u2uUvawf3vTb1lfjzsKYH8zld-J0leI-QIKN9vc9PbIWcAVY6YA5RPkmMUDLMSuHi63qVEeZS8CGELAIIx-Tw5whoFMCGPkx-bG0q96yl1XXqd9Xa8pTY9v7z-xlM7plN81fPk7DDMI6VhDoZ2k21sb6f9ErKZ_Ug-vdqPrXcDpTs9WRqn8DJ51uk-0Kv1PEm-n3_anH3JLi4_fz37eJEZycWUEa-ElC2h5F2LjdA1441siwI6I7CuTQcVcWqlBFGLtivqkiF0CKYhKGXBT5LTQ97d3AzUmljb617tvB203yunrfr3ZbQ36qe7V6wu6lrImODdmsC7u5nCpAYbh-x7PZKbg5IlIpO_Kz0OMijKCiqIIDuAxrsQPHUP3SCoRZzaqkWcWsQpRBXFxaA3f8_xJ2Q1FYG3K6CD0X3n9WhseOAY8rIqoIrchwNH8dfvLXkVTDRiqLWezKRaZx_v4_S_8IiMNla8pT2FrYu-o0-FKjAF6mpZsWXD4uBQI-f8Fxixy9U</recordid><startdate>20090401</startdate><enddate>20090401</enddate><creator>Su, Maureen A</creator><creator>Stenerson, Matthew</creator><creator>Liu, Weihong</creator><creator>Putnam, Amy</creator><creator>Conte, Felix</creator><creator>Bluestone, Jeffrey A</creator><creator>Anderson, Mark S</creator><general>Elsevier Inc</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><scope>5PM</scope></search><sort><creationdate>20090401</creationdate><title>The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients</title><author>Su, Maureen A ; Stenerson, Matthew ; Liu, Weihong ; Putnam, Amy ; Conte, Felix ; Bluestone, Jeffrey A ; Anderson, Mark S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c635t-e38566de163fd1b5a923b6d440fc5199cf08e3ed660595df497210f10cbe07643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Allergy and Immunology</topic><topic>Autoimmune Diseases - genetics</topic><topic>Autoimmune Diseases - immunology</topic><topic>Autoimmunity</topic><topic>Autoimmunity - genetics</topic><topic>Autoimmunity - immunology</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>CD4-CD8 Ratio</topic><topic>Child</topic><topic>Chromosomes, Human, X</topic><topic>Female</topic><topic>Flow Cytometry</topic><topic>Forkhead Transcription Factors - biosynthesis</topic><topic>Forkhead Transcription Factors - genetics</topic><topic>Forkhead Transcription Factors - immunology</topic><topic>FOXP3</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Fundamental immunology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Immunophenotyping - methods</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Regulatory T cells</topic><topic>T-Lymphocytes - immunology</topic><topic>T-Lymphocytes, Regulatory - immunology</topic><topic>Turner Syndrome</topic><topic>Turner Syndrome - genetics</topic><topic>Turner Syndrome - immunology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Su, Maureen A</creatorcontrib><creatorcontrib>Stenerson, Matthew</creatorcontrib><creatorcontrib>Liu, Weihong</creatorcontrib><creatorcontrib>Putnam, Amy</creatorcontrib><creatorcontrib>Conte, Felix</creatorcontrib><creatorcontrib>Bluestone, Jeffrey A</creatorcontrib><creatorcontrib>Anderson, Mark S</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Clinical immunology (Orlando, Fla.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Su, Maureen A</au><au>Stenerson, Matthew</au><au>Liu, Weihong</au><au>Putnam, Amy</au><au>Conte, Felix</au><au>Bluestone, Jeffrey A</au><au>Anderson, Mark S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients</atitle><jtitle>Clinical immunology (Orlando, Fla.)</jtitle><addtitle>Clin Immunol</addtitle><date>2009-04-01</date><risdate>2009</risdate><volume>131</volume><issue>1</issue><spage>139</spage><epage>144</epage><pages>139-144</pages><issn>1521-6616</issn><eissn>1521-7035</eissn><coden>CLIIFY</coden><abstract>Abstract Turner Syndrome patients have an absent second sex chromosome and a predisposition to autoimmune disease. We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of regulatory T cells, and complete loss of FOXP3 expression has been shown to result in severe autoimmunity. To test this hypothesis, we characterized the regulatory T cells and performed immunophenotyping on the peripheral blood leukocytes of a cohort of Turner Syndrome patients. These patients retained regulatory T cell frequency and function despite an increased prevalence of autoimmunity. Immunophenotyping revealed a decrease in the ratio of CD4 to CD8 lymphocytes. 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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Allergy and Immunology Autoimmune Diseases - genetics Autoimmune Diseases - immunology Autoimmunity Autoimmunity - genetics Autoimmunity - immunology Biological and medical sciences Case-Control Studies CD4-CD8 Ratio Child Chromosomes, Human, X Female Flow Cytometry Forkhead Transcription Factors - biosynthesis Forkhead Transcription Factors - genetics Forkhead Transcription Factors - immunology FOXP3 Fundamental and applied biological sciences. Psychology Fundamental immunology Gynecology. Andrology. Obstetrics Humans Immunophenotyping - methods Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Middle Aged Regulatory T cells T-Lymphocytes - immunology T-Lymphocytes, Regulatory - immunology Turner Syndrome Turner Syndrome - genetics Turner Syndrome - immunology Young Adult |
| title | The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients |
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