LymphedemaV1, Main, Exploration, bibRecord, 002A61

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Identifieur interne : 002A61 ( Main/Exploration ); précédent : 002A60; suivant : 002A62

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Auteurs : Michael A. Spinner ; Lauren A. Sanchez ; Amy P. Hsu ; Pamela A. Shaw [États-Unis] ; Christa S. Zerbe ; Katherine R. Calvo [États-Unis] ; Diane C. Arthur [États-Unis] ; Wenjuan Gu [États-Unis] ; Christine M. Gould [États-Unis] ; Carmen C. Brewer [États-Unis] ; Edward W. Cowen [États-Unis] ; Alexandra F. Freeman ; Kenneth N. Olivier ; Gulbu Uzel ; Adrian M. Zelazny ; Janine R. Daub ; Christine D. Spalding ; Reginald J. Claypool ; Neelam K. Giri [États-Unis] ; Blanche P. Alter [États-Unis] ; Emily M. Mace [États-Unis] ; Jordan S. Orange [États-Unis] ; Jennifer Cuellar-Rodriguez ; Dennis D. Hickstein [États-Unis] ; Steven M. Holland

Source :

Blood [ 0006-4971 ] ; 2014.

RBID : PMC:3916876

Descripteurs français

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, Female, GATA2 Transcription Factor (deficiency), GATA2 Transcription Factor (genetics), Genetic Association Studies, Haploinsufficiency, Hematopoiesis, Humans, Immunologic Deficiency Syndromes (genetics), Immunologic Deficiency Syndromes (mortality), Immunologic Deficiency Syndromes (pathology), Infant, Leukemia, Myeloid, Acute (genetics), Leukemia, Myeloid, Acute (mortality), Leukemia, Myeloid, Acute (pathology), Lymphatic System, Male, Middle Aged, Myelodysplastic Syndromes (genetics), Myelodysplastic Syndromes (mortality), Myelodysplastic Syndromes (pathology), Prognosis, Prospective Studies, Survival Rate, Young Adult.
MESH :
- chemical , deficiency : GATA2 Transcription Factor.
- chemical , genetics : GATA2 Transcription Factor.
- genetics : Immunologic Deficiency Syndromes, Leukemia, Myeloid, Acute, Myelodysplastic Syndromes.
- mortality : Immunologic Deficiency Syndromes, Leukemia, Myeloid, Acute, Myelodysplastic Syndromes.
- pathology : Immunologic Deficiency Syndromes, Leukemia, Myeloid, Acute, Myelodysplastic Syndromes.
- Adolescent, Adult, Aged, Child, Female, Genetic Association Studies, Haploinsufficiency, Hematopoiesis, Humans, Infant, Lymphatic System, Male, Middle Aged, Prognosis, Prospective Studies, Survival Rate, Young Adult.

Abstract

Key Points

GATA2 deficiency has a broad phenotype encompassing immunodeficiency, MDS/AML, pulmonary disease, and vascular/lymphatic dysfunction.

Early genetic diagnosis is critical to direct clinical management, prophylaxis, transplantation, and family screening.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916876

DOI: 10.1182/blood-2013-07-515528
PubMed: 24227816
PubMed Central: 3916876

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity</title>
<author><name sortKey="Spinner, Michael A" sort="Spinner, Michael A" uniqKey="Spinner M" first="Michael A." last="Spinner">Michael A. Spinner</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanchez, Lauren A" sort="Sanchez, Lauren A" uniqKey="Sanchez L" first="Lauren A." last="Sanchez">Lauren A. Sanchez</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</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 wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Shaw, Pamela A" sort="Shaw, Pamela A" uniqKey="Shaw P" first="Pamela A." last="Shaw">Pamela A. Shaw</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, 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><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Arthur, Diane C" sort="Arthur, Diane C" uniqKey="Arthur D" first="Diane C." last="Arthur">Diane C. Arthur</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gu, Wenjuan" sort="Gu, Wenjuan" uniqKey="Gu W" first="Wenjuan" last="Gu">Wenjuan Gu</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Support to Biostatistics Research Branch, Clinical Research Directorate/Clinical Monitoring Research Program, Frederick National Laboratory for Cancer Research, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Support to Biostatistics Research Branch, Clinical Research Directorate/Clinical Monitoring Research Program, Frederick National Laboratory for Cancer Research, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gould, Christine M" sort="Gould, Christine M" uniqKey="Gould C" first="Christine M." last="Gould">Christine M. Gould</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Pediatric Pulmonology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Pediatric Pulmonology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Brewer, Carmen C" sort="Brewer, Carmen C" uniqKey="Brewer C" first="Carmen C." last="Brewer">Carmen C. Brewer</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cowen, Edward W" sort="Cowen, Edward W" uniqKey="Cowen E" first="Edward W." last="Cowen">Edward W. Cowen</name>
<affiliation wicri:level="2"><nlm:aff id="aff8">Dermatology Branch, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Dermatology Branch, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</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 wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zelazny, Adrian M" sort="Zelazny, Adrian M" uniqKey="Zelazny A" first="Adrian M." last="Zelazny">Adrian M. Zelazny</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daub, Janine R" sort="Daub, Janine R" uniqKey="Daub J" first="Janine R." last="Daub">Janine R. Daub</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine D" sort="Spalding, Christine D" uniqKey="Spalding C" first="Christine D." last="Spalding">Christine D. Spalding</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Claypool, Reginald J" sort="Claypool, Reginald J" uniqKey="Claypool R" first="Reginald J." last="Claypool">Reginald J. Claypool</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Giri, Neelam K" sort="Giri, Neelam K" uniqKey="Giri N" first="Neelam K." last="Giri">Neelam K. Giri</name>
<affiliation wicri:level="2"><nlm:aff id="aff9">Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Alter, Blanche P" sort="Alter, Blanche P" uniqKey="Alter B" first="Blanche P." last="Alter">Blanche P. Alter</name>
<affiliation wicri:level="2"><nlm:aff id="aff9">Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff10">Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston</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 wicri:cut="; and" id="aff10">Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, National Cancer Institute, 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><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24227816</idno>
<idno type="pmc">3916876</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916876</idno>
<idno type="RBID">PMC:3916876</idno>
<idno type="doi">10.1182/blood-2013-07-515528</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">002C81</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C81</idno>
<idno type="wicri:Area/Pmc/Curation">002C80</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C80</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001B39</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001B39</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001837</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001837</idno>
<idno type="wicri:Area/PubMed/Curation">001837</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001837</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001837</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001837</idno>
<idno type="wicri:Area/Ncbi/Merge">005F31</idno>
<idno type="wicri:Area/Ncbi/Curation">005F31</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">005F31</idno>
<idno type="wicri:doubleKey">0006-4971:2014:Spinner M:gata:deficiency:a</idno>
<idno type="wicri:Area/Main/Merge">002A65</idno>
<idno type="wicri:Area/Main/Curation">002A61</idno>
<idno type="wicri:Area/Main/Exploration">002A61</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity</title>
<author><name sortKey="Spinner, Michael A" sort="Spinner, Michael A" uniqKey="Spinner M" first="Michael A." last="Spinner">Michael A. Spinner</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanchez, Lauren A" sort="Sanchez, Lauren A" uniqKey="Sanchez L" first="Lauren A." last="Sanchez">Lauren A. Sanchez</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</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 wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Shaw, Pamela A" sort="Shaw, Pamela A" uniqKey="Shaw P" first="Pamela A." last="Shaw">Pamela A. Shaw</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, 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><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Arthur, Diane C" sort="Arthur, Diane C" uniqKey="Arthur D" first="Diane C." last="Arthur">Diane C. Arthur</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gu, Wenjuan" sort="Gu, Wenjuan" uniqKey="Gu W" first="Wenjuan" last="Gu">Wenjuan Gu</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Support to Biostatistics Research Branch, Clinical Research Directorate/Clinical Monitoring Research Program, Frederick National Laboratory for Cancer Research, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Support to Biostatistics Research Branch, Clinical Research Directorate/Clinical Monitoring Research Program, Frederick National Laboratory for Cancer Research, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gould, Christine M" sort="Gould, Christine M" uniqKey="Gould C" first="Christine M." last="Gould">Christine M. Gould</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Pediatric Pulmonology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Pediatric Pulmonology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Brewer, Carmen C" sort="Brewer, Carmen C" uniqKey="Brewer C" first="Carmen C." last="Brewer">Carmen C. Brewer</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cowen, Edward W" sort="Cowen, Edward W" uniqKey="Cowen E" first="Edward W." last="Cowen">Edward W. Cowen</name>
<affiliation wicri:level="2"><nlm:aff id="aff8">Dermatology Branch, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Dermatology Branch, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</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 wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zelazny, Adrian M" sort="Zelazny, Adrian M" uniqKey="Zelazny A" first="Adrian M." last="Zelazny">Adrian M. Zelazny</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daub, Janine R" sort="Daub, Janine R" uniqKey="Daub J" first="Janine R." last="Daub">Janine R. Daub</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine D" sort="Spalding, Christine D" uniqKey="Spalding C" first="Christine D." last="Spalding">Christine D. Spalding</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Claypool, Reginald J" sort="Claypool, Reginald J" uniqKey="Claypool R" first="Reginald J." last="Claypool">Reginald J. Claypool</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Giri, Neelam K" sort="Giri, Neelam K" uniqKey="Giri N" first="Neelam K." last="Giri">Neelam K. Giri</name>
<affiliation wicri:level="2"><nlm:aff id="aff9">Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Alter, Blanche P" sort="Alter, Blanche P" uniqKey="Alter B" first="Blanche P." last="Alter">Blanche P. Alter</name>
<affiliation wicri:level="2"><nlm:aff id="aff9">Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff10">Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston</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 wicri:cut="; and" id="aff10">Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Center for Human Immunobiology, Texas Children’s Hospital, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, National Cancer Institute, 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><nlm:aff wicri:cut=", and" id="aff1">Laboratory of Clinical Infectious Diseases</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="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Female</term>
<term>GATA2 Transcription Factor (deficiency)</term>
<term>GATA2 Transcription Factor (genetics)</term>
<term>Genetic Association Studies</term>
<term>Haploinsufficiency</term>
<term>Hematopoiesis</term>
<term>Humans</term>
<term>Immunologic Deficiency Syndromes (genetics)</term>
<term>Immunologic Deficiency Syndromes (mortality)</term>
<term>Immunologic Deficiency Syndromes (pathology)</term>
<term>Infant</term>
<term>Leukemia, Myeloid, Acute (genetics)</term>
<term>Leukemia, Myeloid, Acute (mortality)</term>
<term>Leukemia, Myeloid, Acute (pathology)</term>
<term>Lymphatic System</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Myelodysplastic Syndromes (genetics)</term>
<term>Myelodysplastic Syndromes (mortality)</term>
<term>Myelodysplastic Syndromes (pathology)</term>
<term>Prognosis</term>
<term>Prospective Studies</term>
<term>Survival Rate</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Déficits immunitaires (anatomopathologie)</term>
<term>Déficits immunitaires (génétique)</term>
<term>Déficits immunitaires (mortalité)</term>
<term>Enfant</term>
<term>Facteur de transcription GATA-2 (déficit)</term>
<term>Facteur de transcription GATA-2 (génétique)</term>
<term>Femelle</term>
<term>Haploinsuffisance</term>
<term>Humains</term>
<term>Hématopoïèse</term>
<term>Jeune adulte</term>
<term>Leucémie aigüe myéloïde (anatomopathologie)</term>
<term>Leucémie aigüe myéloïde (génétique)</term>
<term>Leucémie aigüe myéloïde (mortalité)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pronostic</term>
<term>Sujet âgé</term>
<term>Syndromes myélodysplasiques (anatomopathologie)</term>
<term>Syndromes myélodysplasiques (génétique)</term>
<term>Syndromes myélodysplasiques (mortalité)</term>
<term>Système lymphatique</term>
<term>Taux de survie</term>
<term>Études d'associations génétiques</term>
<term>Études prospectives</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GATA2 Transcription Factor</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GATA2 Transcription Factor</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficits immunitaires</term>
<term>Leucémie aigüe myéloïde</term>
<term>Syndromes myélodysplasiques</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Facteur de transcription GATA-2</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
<term>Leukemia, Myeloid, Acute</term>
<term>Myelodysplastic Syndromes</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficits immunitaires</term>
<term>Facteur de transcription GATA-2</term>
<term>Leucémie aigüe myéloïde</term>
<term>Syndromes myélodysplasiques</term>
</keywords>
<keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
<term>Leukemia, Myeloid, Acute</term>
<term>Myelodysplastic Syndromes</term>
</keywords>
<keywords scheme="MESH" qualifier="mortalité" xml:lang="fr"><term>Déficits immunitaires</term>
<term>Leucémie aigüe myéloïde</term>
<term>Syndromes myélodysplasiques</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
<term>Leukemia, Myeloid, Acute</term>
<term>Myelodysplastic Syndromes</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Haploinsufficiency</term>
<term>Hematopoiesis</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphatic System</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prognosis</term>
<term>Prospective Studies</term>
<term>Survival Rate</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Haploinsuffisance</term>
<term>Humains</term>
<term>Hématopoïèse</term>
<term>Jeune adulte</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pronostic</term>
<term>Sujet âgé</term>
<term>Système lymphatique</term>
<term>Taux de survie</term>
<term>Études d'associations génétiques</term>
<term>Études prospectives</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><title>Key Points</title>
<p><list list-type="bullet"><list-item><p>GATA2 deficiency has a broad phenotype encompassing immunodeficiency, MDS/AML, pulmonary disease, and vascular/lymphatic dysfunction.</p>
</list-item>
<list-item><p>Early genetic diagnosis is critical to direct clinical management, prophylaxis, transplantation, and family screening.</p>
</list-item>
</list>
</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Maryland</li>
<li>Texas</li>
</region>
</list>
<tree><noCountry><name sortKey="Claypool, Reginald J" sort="Claypool, Reginald J" uniqKey="Claypool R" first="Reginald J." last="Claypool">Reginald J. Claypool</name>
<name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<name sortKey="Daub, Janine R" sort="Daub, Janine R" uniqKey="Daub J" first="Janine R." last="Daub">Janine R. Daub</name>
<name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</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="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<name sortKey="Sanchez, Lauren A" sort="Sanchez, Lauren A" uniqKey="Sanchez L" first="Lauren A." last="Sanchez">Lauren A. Sanchez</name>
<name sortKey="Spalding, Christine D" sort="Spalding, Christine D" uniqKey="Spalding C" first="Christine D." last="Spalding">Christine D. Spalding</name>
<name sortKey="Spinner, Michael A" sort="Spinner, Michael A" uniqKey="Spinner M" first="Michael A." last="Spinner">Michael A. Spinner</name>
<name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
<name sortKey="Zelazny, Adrian M" sort="Zelazny, Adrian M" uniqKey="Zelazny A" first="Adrian M." last="Zelazny">Adrian M. Zelazny</name>
<name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
</noCountry>
<country name="États-Unis"><region name="Maryland"><name sortKey="Shaw, Pamela A" sort="Shaw, Pamela A" uniqKey="Shaw P" first="Pamela A." last="Shaw">Pamela A. Shaw</name>
</region>
<name sortKey="Alter, Blanche P" sort="Alter, Blanche P" uniqKey="Alter B" first="Blanche P." last="Alter">Blanche P. Alter</name>
<name sortKey="Arthur, Diane C" sort="Arthur, Diane C" uniqKey="Arthur D" first="Diane C." last="Arthur">Diane C. Arthur</name>
<name sortKey="Brewer, Carmen C" sort="Brewer, Carmen C" uniqKey="Brewer C" first="Carmen C." last="Brewer">Carmen C. Brewer</name>
<name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<name sortKey="Cowen, Edward W" sort="Cowen, Edward W" uniqKey="Cowen E" first="Edward W." last="Cowen">Edward W. Cowen</name>
<name sortKey="Giri, Neelam K" sort="Giri, Neelam K" uniqKey="Giri N" first="Neelam K." last="Giri">Neelam K. Giri</name>
<name sortKey="Gould, Christine M" sort="Gould, Christine M" uniqKey="Gould C" first="Christine M." last="Gould">Christine M. Gould</name>
<name sortKey="Gu, Wenjuan" sort="Gu, Wenjuan" uniqKey="Gu W" first="Wenjuan" last="Gu">Wenjuan Gu</name>
<name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<name sortKey="Mace, Emily M" sort="Mace, Emily M" uniqKey="Mace E" first="Emily M." last="Mace">Emily M. Mace</name>
<name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002A61 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002A61 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3916876
   |texte=   GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:24227816" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.