Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset
Identifieur interne : 003372 ( Main/Exploration ); précédent : 003371; suivant : 003373Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset
Auteurs : Emily M. Mace [États-Unis] ; Amy P. Hsu [États-Unis] ; Linda Monaco-Shawver [États-Unis] ; George Makedonas [États-Unis] ; Joshua B. Rosen [États-Unis] ; Lesia Dropulic [États-Unis] ; Jeffrey I. Cohen [États-Unis] ; Eugene P. Frenkel [États-Unis] ; John C. Bagwell [États-Unis] ; John L. Sullivan [États-Unis] ; Christine A. Biron [États-Unis] ; Christine Spalding [États-Unis] ; Christa S. Zerbe [États-Unis] ; Gulbu Uzel [États-Unis] ; Steven M. Holland [États-Unis] ; Jordan S. Orange [États-Unis]Source :
- Blood [ 0006-4971 ] ; 2013.
Abstract
Mutations in GATA2 are a cause of human NK cell deficiency. GATA2 is required for human NK cell maturation, specifically maintenance of the CD56bright subset.
Url:
DOI: 10.1182/blood-2012-09-453969
PubMed: 23365458
PubMed Central: 3617632
Affiliations:
Links toward previous steps (curation, corpus...)
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- to stream Pmc, to step Curation: 002C73
- to stream Pmc, to step Checkpoint: 002132
- to stream Ncbi, to step Merge: 005567
- to stream Ncbi, to step Curation: 005567
- to stream Ncbi, to step Checkpoint: 005567
- to stream Main, to step Merge: 003378
- to stream Main, to step Curation: 003372
Le document en format XML
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Mace</name><affiliation wicri:level="2"><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children’s Hospital Center for Human Immunobiology, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. 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Mace</name><affiliation wicri:level="2"><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children’s Hospital Center for Human Immunobiology, Houston</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Children’s Hospital of Philadelphia Research Institute, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Makedonas, George" sort="Makedonas, George" uniqKey="Makedonas G" first="George" last="Makedonas">George Makedonas</name><affiliation wicri:level="2"><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children’s Hospital Center for Human Immunobiology, Houston</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff4">Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Children’s Hospital of Philadelphia Research Institute, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Dropulic, Lesia" sort="Dropulic, Lesia" uniqKey="Dropulic L" first="Lesia" last="Dropulic">Lesia Dropulic</name><affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff5">Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>University of Texas Southwestern Medical Center, Dallas</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff6">University of Texas Southwestern Medical Center, Dallas, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>University of Texas Southwestern Medical Center, Dallas</wicri:cityArea></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 wicri:level="2"><nlm:aff wicri:cut="; and" id="aff7">University of Massachusetts Medical School, Worcester, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>University of Massachusetts Medical School, Worcester</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff8">Division of Biology and Medicine, Brown University, Providence, RI</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Rhode Island</region></placeName><wicri:cityArea>Division of Biology and Medicine, Brown University, Providence</wicri:cityArea></affiliation></author><author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name><affiliation wicri:level="2"><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation wicri:level="2"><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff3">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda</wicri:cityArea></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 wicri:level="2"><nlm:aff id="aff1">Baylor College of Medicine, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2">Texas Children’s Hospital Center for Human Immunobiology, Houston, TX;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children’s Hospital Center for Human Immunobiology, Houston</wicri:cityArea></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><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li><li>Massachusetts</li><li>Pennsylvanie</li><li>Rhode Island</li><li>Texas</li></region></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name></region><name sortKey="Bagwell, John C" sort="Bagwell, John C" uniqKey="Bagwell J" first="John C." last="Bagwell">John C. Bagwell</name><name sortKey="Biron, Christine A" sort="Biron, Christine A" uniqKey="Biron C" first="Christine A." last="Biron">Christine A. Biron</name><name sortKey="Cohen, Jeffrey I" sort="Cohen, Jeffrey I" uniqKey="Cohen J" first="Jeffrey I." last="Cohen">Jeffrey I. Cohen</name><name sortKey="Dropulic, Lesia" sort="Dropulic, Lesia" uniqKey="Dropulic L" first="Lesia" last="Dropulic">Lesia Dropulic</name><name sortKey="Frenkel, Eugene P" sort="Frenkel, Eugene P" uniqKey="Frenkel E" first="Eugene P." last="Frenkel">Eugene P. Frenkel</name><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name><name sortKey="Makedonas, George" sort="Makedonas, George" uniqKey="Makedonas G" first="George" last="Makedonas">George Makedonas</name><name sortKey="Makedonas, George" sort="Makedonas, George" uniqKey="Makedonas G" first="George" last="Makedonas">George Makedonas</name><name sortKey="Monaco Shawver, Linda" sort="Monaco Shawver, Linda" uniqKey="Monaco Shawver L" first="Linda" last="Monaco-Shawver">Linda Monaco-Shawver</name><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name><name sortKey="Rosen, Joshua B" sort="Rosen, Joshua B" uniqKey="Rosen J" first="Joshua B." last="Rosen">Joshua B. Rosen</name><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name><name sortKey="Sullivan, John L" sort="Sullivan, John L" uniqKey="Sullivan J" first="John L." last="Sullivan">John L. Sullivan</name><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23365458" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |