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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>GATA2</italic> cause human NK cell deficiency with specific loss of the CD56<sup>bright</sup> subset</title><author><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Monaco Shawver, Linda" sort="Monaco Shawver, Linda" uniqKey="Monaco Shawver L" first="Linda" last="Monaco-Shawver">Linda Monaco-Shawver</name><affiliation><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Makedonas, George" sort="Makedonas, George" uniqKey="Makedonas G" first="George" last="Makedonas">George Makedonas</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Rosen, Joshua B" sort="Rosen, Joshua B" uniqKey="Rosen J" first="Joshua B." last="Rosen">Joshua B. Rosen</name><affiliation><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Dropulic, Lesia" sort="Dropulic, Lesia" uniqKey="Dropulic L" first="Lesia" last="Dropulic">Lesia Dropulic</name><affiliation><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Cohen, Jeffrey I" sort="Cohen, Jeffrey I" uniqKey="Cohen J" first="Jeffrey I." last="Cohen">Jeffrey I. Cohen</name><affiliation><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Frenkel, Eugene P" sort="Frenkel, Eugene P" uniqKey="Frenkel E" first="Eugene P." last="Frenkel">Eugene P. Frenkel</name><affiliation><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff></affiliation></author><author><name sortKey="Bagwell, John C" sort="Bagwell, John C" uniqKey="Bagwell J" first="John C." last="Bagwell">John C. Bagwell</name><affiliation><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff></affiliation></author><author><name sortKey="Sullivan, John L" sort="Sullivan, John L" uniqKey="Sullivan J" first="John L." last="Sullivan">John L. Sullivan</name><affiliation><nlm:aff wicri:cut="; and" id="aff7">University of Massachusetts Medical School, Worcester, MA</nlm:aff></affiliation></author><author><name sortKey="Biron, Christine A" sort="Biron, Christine A" uniqKey="Biron C" first="Christine A." last="Biron">Christine A. Biron</name><affiliation><nlm:aff id="aff8">Division of Biology and Medicine, Brown University, Providence, RI</nlm:aff></affiliation></author><author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23365458</idno><idno type="pmc">3617632</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617632</idno><idno type="RBID">PMC:3617632</idno><idno type="doi">10.1182/blood-2012-09-453969</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002C74</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GATA2</italic> cause human NK cell deficiency with specific loss of the CD56<sup>bright</sup> subset</title><author><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Monaco Shawver, Linda" sort="Monaco Shawver, Linda" uniqKey="Monaco Shawver L" first="Linda" last="Monaco-Shawver">Linda Monaco-Shawver</name><affiliation><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Makedonas, George" sort="Makedonas, George" uniqKey="Makedonas G" first="George" last="Makedonas">George Makedonas</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Rosen, Joshua B" sort="Rosen, Joshua B" uniqKey="Rosen J" first="Joshua B." last="Rosen">Joshua B. Rosen</name><affiliation><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Dropulic, Lesia" sort="Dropulic, Lesia" uniqKey="Dropulic L" first="Lesia" last="Dropulic">Lesia Dropulic</name><affiliation><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Cohen, Jeffrey I" sort="Cohen, Jeffrey I" uniqKey="Cohen J" first="Jeffrey I." last="Cohen">Jeffrey I. Cohen</name><affiliation><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Frenkel, Eugene P" sort="Frenkel, Eugene P" uniqKey="Frenkel E" first="Eugene P." last="Frenkel">Eugene P. Frenkel</name><affiliation><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff></affiliation></author><author><name sortKey="Bagwell, John C" sort="Bagwell, John C" uniqKey="Bagwell J" first="John C." last="Bagwell">John C. Bagwell</name><affiliation><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff></affiliation></author><author><name sortKey="Sullivan, John L" sort="Sullivan, John L" uniqKey="Sullivan J" first="John L." last="Sullivan">John L. Sullivan</name><affiliation><nlm:aff wicri:cut="; and" id="aff7">University of Massachusetts Medical School, Worcester, MA</nlm:aff></affiliation></author><author><name sortKey="Biron, Christine A" sort="Biron, Christine A" uniqKey="Biron C" first="Christine A." last="Biron">Christine A. Biron</name><affiliation><nlm:aff id="aff8">Division of Biology and Medicine, Brown University, Providence, RI</nlm:aff></affiliation></author><author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff></affiliation></author><author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name><affiliation><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Mutations in GATA2 are a cause of human NK cell deficiency.</p></list-item><list-item><p>GATA2 is required for human NK cell maturation, specifically maintenance of the CD56<sup>bright</sup> subset.</p></list-item></list></p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id><journal-id journal-id-type="iso-abbrev">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title-group><journal-title>Blood</journal-title></journal-title-group><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23365458</article-id><article-id pub-id-type="pmc">3617632</article-id><article-id pub-id-type="publisher-id">2012/453969</article-id><article-id pub-id-type="doi">10.1182/blood-2012-09-453969</article-id><article-categories><subj-group subj-group-type="heading"><subject>Immunobiology</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>GATA2</italic> cause human NK cell deficiency with specific loss of the CD56<sup>bright</sup> subset</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Mace</surname><given-names>Emily M.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Hsu</surname><given-names>Amy P.</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Monaco-Shawver</surname><given-names>Linda</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Makedonas</surname><given-names>George</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Rosen</surname><given-names>Joshua B.</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Dropulic</surname><given-names>Lesia</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Cohen</surname><given-names>Jeffrey I.</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Frenkel</surname><given-names>Eugene P.</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Bagwell</surname><given-names>John C.</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Sullivan</surname><given-names>John L.</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Biron</surname><given-names>Christine A.</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Spalding</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Zerbe</surname><given-names>Christa S.</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Uzel</surname><given-names>Gulbu</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Orange</surname><given-names>Jordan S.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><aff id="aff1"><label>1</label>Baylor College of Medicine, Houston, TX;</aff><aff id="aff2"><label>2</label>Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</aff><aff id="aff3"><label>3</label>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</aff><aff id="aff4"><label>4</label>Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</aff><aff id="aff5"><label>5</label>Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</aff><aff id="aff6"><label>6</label>University of Texas Southwestern Medical Center, Dallas, TX;</aff><aff id="aff7"><label>7</label>University of Massachusetts Medical School, Worcester, MA; and</aff><aff id="aff8"><label>8</label>Division of Biology and Medicine, Brown University, Providence, RI</aff></contrib-group><pub-date pub-type="ppub"><day>04</day><month>4</month><year>2013</year></pub-date><pub-date pub-type="epreprint"><day>30</day><month>1</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>4</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 12 months and 0 days and was based on the
<volume>121</volume><issue>14</issue><fpage>2669</fpage><lpage>2677</lpage><history><date date-type="received"><day>05</day><month>9</month><year>2012</year></date><date date-type="accepted"><day>17</day><month>1</month><year>2013</year></date></history><permissions><copyright-statement>© 2013 by The American Society of Hematology</copyright-statement><copyright-year>2013</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="2669.pdf"></self-uri><related-article related-article-type="article-reference" id="d35e254" vol="121" page="2579" ext-link-type="pmc"></related-article><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Mutations in GATA2 are a cause of human NK cell deficiency.</p></list-item><list-item><p>GATA2 is required for human NK cell maturation, specifically maintenance of the CD56<sup>bright</sup> subset.</p></list-item></list></p></abstract><abstract><p>Mutations in the transcription factor GATA2 underlie the syndrome of monocytopenia and B- and natural killer (NK)-cell lymphopenia associated with opportunistic infections and cancers. In addition, patients have recurrent and severe viral infections. NK cells play a critical role in mediating antiviral immunity. Human NK cells are thought to mature in a linear fashion, with the CD56<sup>bright</sup> stage preceding terminal maturation to the CD56<sup>dim</sup> stage, considered the most enabled for cytotoxicity. Here we report an NK cell functional defect in GATA2-deficient patients and extend this genetic lesion to what is considered to be the original NK cell-deficient patient. In most cases, GATA2 deficiency is accompanied by a severe reduction in peripheral blood NK cells and marked functional impairment. The NK cells detected in peripheral blood of some GATA2-deficient patients are exclusively of the CD56<sup>dim</sup> subset, which is recapitulated on in vitro NK cell differentiation. In vivo, interferon α treatment increased NK cell number and partially restored function but did not correct the paucity of CD56<sup>bright</sup> cells. Thus, GATA2 is required for the maturation of human NK cells and the maintenance of the CD56<sup>bright</sup> pool in the periphery. Defects in GATA2 are a novel cause of profound NK cell dysfunction.</p></abstract><funding-group><award-group><funding-source id="CS100">National Institutes of Health</funding-source><award-id rid="CS100">R01 067946</award-id></award-group></funding-group><counts><page-count count="9"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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