Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome
Identifieur interne : 000E87 ( Main/Exploration ); précédent : 000E86; suivant : 000E88Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome
Auteurs : Michaela Nováková [République tchèque] ; Markéta Žaliová [République tchèque] ; Martina Suková [République tchèque] ; Marcin Wlodarski [Allemagne] ; Aleš Janda [Allemagne] ; Eva Fro Ková [République tchèque] ; Vít Campr [République tchèque] ; Kate Ina Lejhancová [République tchèque] ; Ond Ej Zapletal [République tchèque] ; Dagmar Pospíšilová [République tchèque] ; Zde Ka Erná [République tchèque] ; Tomáš Kuhn [République tchèque] ; Peter Švec [Slovaquie] ; Vendula Pelková [République tchèque] ; Zuzana Zemanová [République tchèque] ; Gitte Kerndrup [Danemark] ; Marry Van Den Heuvel-Eibrink [Pays-Bas] ; Vincent Van Der Velden [Pays-Bas] ; Charlotte Niemeyer [Allemagne] ; Tomáš Kalina [République tchèque] ; Jan Trka [République tchèque] ; Jan Star [République tchèque] ; Ond Ej Hrušák [République tchèque] ; Ester Mejst Ková [République tchèque]Source :
- Haematologica [ 0390-6078 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Anémie aplasique (diagnostic), Anémie aplasique (étiologie), Cellules de la moelle osseuse (anatomopathologie), Cellules de la moelle osseuse (métabolisme), Cellules myéloïdes (métabolisme), Courbe ROC, Diagnostic différentiel, Enfant, Enfant d'âge préscolaire, Facteur de transcription GATA-2 (déficit), Humains, Immunophénotypage, Jeune adulte, Lymphocytes B (métabolisme), Lymphopénie (diagnostic), Marqueurs biologiques, Moelle osseuse (anatomopathologie), Moelle osseuse (métabolisme), Mutation, Nourrisson, Numération des lymphocytes, Phénotype, Précurseurs lymphoïdes B (métabolisme), Sous-populations de lymphocytes T (immunologie), Sous-populations de lymphocytes T (métabolisme), Syndromes myélodysplasiques (diagnostic), Syndromes myélodysplasiques (génétique).
- MESH :
- anatomopathologie : Cellules de la moelle osseuse, Moelle osseuse.
- diagnostic : Anémie aplasique, Lymphopénie, Syndromes myélodysplasiques.
- déficit : Facteur de transcription GATA-2.
- génétique : Syndromes myélodysplasiques.
- immunologie : Sous-populations de lymphocytes T.
- métabolisme : Cellules de la moelle osseuse, Cellules myéloïdes, Lymphocytes B, Moelle osseuse, Précurseurs lymphoïdes B, Sous-populations de lymphocytes T.
- étiologie : Anémie aplasique.
- Adolescent, Courbe ROC, Diagnostic différentiel, Enfant, Enfant d'âge préscolaire, Humains, Immunophénotypage, Jeune adulte, Marqueurs biologiques, Mutation, Nourrisson, Numération des lymphocytes, Phénotype.
English descriptors
- KwdEn :
- Adolescent, Anemia, Aplastic (diagnosis), Anemia, Aplastic (etiology), B-Lymphocytes (metabolism), Biomarkers, Bone Marrow (metabolism), Bone Marrow (pathology), Bone Marrow Cells (metabolism), Bone Marrow Cells (pathology), Child, Child, Preschool, Diagnosis, Differential, GATA2 Transcription Factor (deficiency), Humans, Immunophenotyping, Infant, Lymphocyte Count, Lymphopenia (diagnosis), Mutation, Myelodysplastic Syndromes (diagnosis), Myelodysplastic Syndromes (genetics), Myeloid Cells (metabolism), Phenotype, Precursor Cells, B-Lymphoid (metabolism), ROC Curve, T-Lymphocyte Subsets (immunology), T-Lymphocyte Subsets (metabolism), Young Adult.
- MESH :
- chemical , deficiency : GATA2 Transcription Factor.
- chemical : Biomarkers.
- diagnosis : Anemia, Aplastic, Lymphopenia, Myelodysplastic Syndromes.
- etiology : Anemia, Aplastic.
- genetics : Myelodysplastic Syndromes.
- immunology : T-Lymphocyte Subsets.
- metabolism : B-Lymphocytes, Bone Marrow, Bone Marrow Cells, Myeloid Cells, Precursor Cells, B-Lymphoid, T-Lymphocyte Subsets.
- pathology : Bone Marrow, Bone Marrow Cells.
- Adolescent, Child, Child, Preschool, Diagnosis, Differential, Humans, Immunophenotyping, Infant, Lymphocyte Count, Mutation, Phenotype, ROC Curve, Young Adult.
Abstract
GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the
Url:
DOI: 10.3324/haematol.2015.137711
PubMed: 27013649
PubMed Central: 5013954
Affiliations:
- Allemagne, Danemark, Pays-Bas, République tchèque, Slovaquie
- Bade-Wurtemberg, Bohême centrale, District de Fribourg-en-Brisgau, Hollande-Méridionale, Moravie, Utrecht (province)
- Brno, Fribourg-en-Brisgau, Prague, Rotterdam, Utrecht
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Le document en format XML
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Molecular Medicine, University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pathology and Molecular Medicine, University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Lejhancova, Kate Ina" sort="Lejhancova, Kate Ina" uniqKey="Lejhancova K" first="Kate Ina" last="Lejhancová">Kate Ina Lejhancová</name><affiliation wicri:level="1"><nlm:aff id="af5-1010707">Department of Pediatrics, Charles University, University Hospital Hradec Králové, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, Charles University, University Hospital Hradec Králové</wicri:regionArea><wicri:noRegion>University Hospital Hradec Králové</wicri:noRegion></affiliation></author><author><name sortKey="Zapletal, Ond Ej" sort="Zapletal, Ond Ej" uniqKey="Zapletal O" first="Ond Ej" last="Zapletal">Ond Ej Zapletal</name><affiliation wicri:level="3"><nlm:aff id="af6-1010707">Department of Pediatric Hematology, Children’s University Hospital, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatric Hematology, Children’s University Hospital, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Pospisilova, Dagmar" sort="Pospisilova, Dagmar" uniqKey="Pospisilova D" first="Dagmar" last="Pospíšilová">Dagmar Pospíšilová</name><affiliation wicri:level="1"><nlm:aff id="af7-1010707">Department of Pediatrics, Palacky University and University Hospital Olomouc, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, Palacky University and University Hospital Olomouc</wicri:regionArea><wicri:noRegion>Palacky University and University Hospital Olomouc</wicri:noRegion></affiliation></author><author><name sortKey=" Erna, Zde Ka" sort=" Erna, Zde Ka" uniqKey=" Erna Z" first="Zde Ka" last=" Erná">Zde Ka Erná</name><affiliation wicri:level="1"><nlm:aff id="af8-1010707">Department of Pediatrics, University Hospital Pilsen, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, University Hospital Pilsen</wicri:regionArea><wicri:noRegion>University Hospital Pilsen</wicri:noRegion></affiliation></author><author><name sortKey="Kuhn, Tomas" sort="Kuhn, Tomas" uniqKey="Kuhn T" first="Tomáš" last="Kuhn">Tomáš Kuhn</name><affiliation wicri:level="1"><nlm:aff id="af9-1010707">Department of Pediatrics Ostrava, University Hospital Ostrava, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics Ostrava, University Hospital Ostrava</wicri:regionArea><wicri:noRegion>University Hospital Ostrava</wicri:noRegion></affiliation></author><author><name sortKey="Svec, Peter" sort="Svec, Peter" uniqKey="Svec P" first="Peter" last="Švec">Peter Švec</name><affiliation wicri:level="1"><nlm:aff id="af10-1010707">Department of Pediatric Hematology and Oncology, University Hospital Bratislava, Slovakia</nlm:aff><country xml:lang="fr">Slovaquie</country><wicri:regionArea>Department of Pediatric Hematology and Oncology, University Hospital Bratislava</wicri:regionArea><wicri:noRegion>University Hospital Bratislava</wicri:noRegion></affiliation></author><author><name sortKey="Pelkova, Vendula" sort="Pelkova, Vendula" uniqKey="Pelkova V" first="Vendula" last="Pelková">Vendula Pelková</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Zemanova, Zuzana" sort="Zemanova, Zuzana" uniqKey="Zemanova Z" first="Zuzana" last="Zemanová">Zuzana Zemanová</name><affiliation wicri:level="3"><nlm:aff id="af11-1010707">Centre of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, 1<sup>st</sup> Faculty of Medicine and General University Hospital and Charles University, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine and General University Hospital and Charles University, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Kerndrup, Gitte" sort="Kerndrup, Gitte" uniqKey="Kerndrup G" first="Gitte" last="Kerndrup">Gitte Kerndrup</name><affiliation wicri:level="1"><nlm:aff id="af12-1010707">Department of Pathology, Aarhus University Hospital, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Pathology, Aarhus University Hospital</wicri:regionArea><wicri:noRegion>Aarhus University Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Heuvel Eibrink, Marry" sort="Van Den Heuvel Eibrink, Marry" uniqKey="Van Den Heuvel Eibrink M" first="Marry" last="Van Den Heuvel-Eibrink">Marry Van Den Heuvel-Eibrink</name><affiliation wicri:level="3"><nlm:aff id="af13-1010707">Department of Pediatric Oncology, Princess Máxima Centre for Paediatric Oncology, Utrecht, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Pediatric Oncology, Princess Máxima Centre for Paediatric Oncology, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Van Der Velden, Vincent" sort="Van Der Velden, Vincent" uniqKey="Van Der Velden V" first="Vincent" last="Van Der Velden">Vincent Van Der Velden</name><affiliation wicri:level="3"><nlm:aff id="af14-1010707">Department of Immunology, Erasmus MC, Rotterdam, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Immunology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Niemeyer, Charlotte" sort="Niemeyer, Charlotte" uniqKey="Niemeyer C" first="Charlotte" last="Niemeyer">Charlotte Niemeyer</name><affiliation wicri:level="3"><nlm:aff id="af3-1010707">Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Kalina, Tomas" sort="Kalina, Tomas" uniqKey="Kalina T" first="Tomáš" last="Kalina">Tomáš Kalina</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Trka, Jan" sort="Trka, Jan" uniqKey="Trka J" first="Jan" last="Trka">Jan Trka</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Star, Jan" sort="Star, Jan" uniqKey="Star J" first="Jan" last="Star">Jan Star</name><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Hrusak, Ond Ej" sort="Hrusak, Ond Ej" uniqKey="Hrusak O" first="Ond Ej" last="Hrušák">Ond Ej Hrušák</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> 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type="wicri:Area/Main/Exploration">000E87</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome</title><author><name sortKey="Novakova, Michaela" sort="Novakova, Michaela" uniqKey="Novakova M" first="Michaela" last="Nováková">Michaela Nováková</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Zaliova, Marketa" sort="Zaliova, Marketa" uniqKey="Zaliova M" first="Markéta" last="Žaliová">Markéta Žaliová</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Sukova, Martina" sort="Sukova, Martina" uniqKey="Sukova M" first="Martina" last="Suková">Martina Suková</name><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Wlodarski, Marcin" sort="Wlodarski, Marcin" uniqKey="Wlodarski M" first="Marcin" last="Wlodarski">Marcin Wlodarski</name><affiliation wicri:level="3"><nlm:aff id="af3-1010707">Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Janda, Ales" sort="Janda, Ales" uniqKey="Janda A" first="Aleš" last="Janda">Aleš Janda</name><affiliation wicri:level="3"><nlm:aff id="af3-1010707">Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Fro Kova, Eva" sort="Fro Kova, Eva" uniqKey="Fro Kova E" first="Eva" last="Fro Ková">Eva Fro Ková</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Campr, Vit" sort="Campr, Vit" uniqKey="Campr V" first="Vít" last="Campr">Vít Campr</name><affiliation wicri:level="3"><nlm:aff id="af4-1010707">Department of Pathology and Molecular Medicine, University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pathology and Molecular Medicine, University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Lejhancova, Kate Ina" sort="Lejhancova, Kate Ina" uniqKey="Lejhancova K" first="Kate Ina" last="Lejhancová">Kate Ina Lejhancová</name><affiliation wicri:level="1"><nlm:aff id="af5-1010707">Department of Pediatrics, Charles University, University Hospital Hradec Králové, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, Charles University, University Hospital Hradec Králové</wicri:regionArea><wicri:noRegion>University Hospital Hradec Králové</wicri:noRegion></affiliation></author><author><name sortKey="Zapletal, Ond Ej" sort="Zapletal, Ond Ej" uniqKey="Zapletal O" first="Ond Ej" last="Zapletal">Ond Ej Zapletal</name><affiliation wicri:level="3"><nlm:aff id="af6-1010707">Department of Pediatric Hematology, Children’s University Hospital, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatric Hematology, Children’s University Hospital, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Pospisilova, Dagmar" sort="Pospisilova, Dagmar" uniqKey="Pospisilova D" first="Dagmar" last="Pospíšilová">Dagmar Pospíšilová</name><affiliation wicri:level="1"><nlm:aff id="af7-1010707">Department of Pediatrics, Palacky University and University Hospital Olomouc, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, Palacky University and University Hospital Olomouc</wicri:regionArea><wicri:noRegion>Palacky University and University Hospital Olomouc</wicri:noRegion></affiliation></author><author><name sortKey=" Erna, Zde Ka" sort=" Erna, Zde Ka" uniqKey=" Erna Z" first="Zde Ka" last=" Erná">Zde Ka Erná</name><affiliation wicri:level="1"><nlm:aff id="af8-1010707">Department of Pediatrics, University Hospital Pilsen, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics, University Hospital Pilsen</wicri:regionArea><wicri:noRegion>University Hospital Pilsen</wicri:noRegion></affiliation></author><author><name sortKey="Kuhn, Tomas" sort="Kuhn, Tomas" uniqKey="Kuhn T" first="Tomáš" last="Kuhn">Tomáš Kuhn</name><affiliation wicri:level="1"><nlm:aff id="af9-1010707">Department of Pediatrics Ostrava, University Hospital Ostrava, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics Ostrava, University Hospital Ostrava</wicri:regionArea><wicri:noRegion>University Hospital Ostrava</wicri:noRegion></affiliation></author><author><name sortKey="Svec, Peter" sort="Svec, Peter" uniqKey="Svec P" first="Peter" last="Švec">Peter Švec</name><affiliation wicri:level="1"><nlm:aff id="af10-1010707">Department of Pediatric Hematology and Oncology, University Hospital Bratislava, Slovakia</nlm:aff><country xml:lang="fr">Slovaquie</country><wicri:regionArea>Department of Pediatric Hematology and Oncology, University Hospital Bratislava</wicri:regionArea><wicri:noRegion>University Hospital Bratislava</wicri:noRegion></affiliation></author><author><name sortKey="Pelkova, Vendula" sort="Pelkova, Vendula" uniqKey="Pelkova V" first="Vendula" last="Pelková">Vendula Pelková</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Zemanova, Zuzana" sort="Zemanova, Zuzana" uniqKey="Zemanova Z" first="Zuzana" last="Zemanová">Zuzana Zemanová</name><affiliation wicri:level="3"><nlm:aff id="af11-1010707">Centre of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, 1<sup>st</sup> Faculty of Medicine and General University Hospital and Charles University, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine and General University Hospital and Charles University, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Kerndrup, Gitte" sort="Kerndrup, Gitte" uniqKey="Kerndrup G" first="Gitte" last="Kerndrup">Gitte Kerndrup</name><affiliation wicri:level="1"><nlm:aff id="af12-1010707">Department of Pathology, Aarhus University Hospital, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Pathology, Aarhus University Hospital</wicri:regionArea><wicri:noRegion>Aarhus University Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Heuvel Eibrink, Marry" sort="Van Den Heuvel Eibrink, Marry" uniqKey="Van Den Heuvel Eibrink M" first="Marry" last="Van Den Heuvel-Eibrink">Marry Van Den Heuvel-Eibrink</name><affiliation wicri:level="3"><nlm:aff id="af13-1010707">Department of Pediatric Oncology, Princess Máxima Centre for Paediatric Oncology, Utrecht, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Pediatric Oncology, Princess Máxima Centre for Paediatric Oncology, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Van Der Velden, Vincent" sort="Van Der Velden, Vincent" uniqKey="Van Der Velden V" first="Vincent" last="Van Der Velden">Vincent Van Der Velden</name><affiliation wicri:level="3"><nlm:aff id="af14-1010707">Department of Immunology, Erasmus MC, Rotterdam, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Immunology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Niemeyer, Charlotte" sort="Niemeyer, Charlotte" uniqKey="Niemeyer C" first="Charlotte" last="Niemeyer">Charlotte Niemeyer</name><affiliation wicri:level="3"><nlm:aff id="af3-1010707">Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Kalina, Tomas" sort="Kalina, Tomas" uniqKey="Kalina T" first="Tomáš" last="Kalina">Tomáš Kalina</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Trka, Jan" sort="Trka, Jan" uniqKey="Trka J" first="Jan" last="Trka">Jan Trka</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Star, Jan" sort="Star, Jan" uniqKey="Star J" first="Jan" last="Star">Jan Star</name><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Hrusak, Ond Ej" sort="Hrusak, Ond Ej" uniqKey="Hrusak O" first="Ond Ej" last="Hrušák">Ond Ej Hrušák</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Mejst Kova, Ester" sort="Mejst Kova, Ester" uniqKey="Mejst Kova E" first="Ester" last="Mejst Ková">Ester Mejst Ková</name><affiliation wicri:level="3"><nlm:aff id="af1-1010707">CLIP-Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af2-1010707">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup> Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea> Faculty of Medicine, Charles University and University Hospital Motol, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author></analytic><series><title level="j">Haematologica</title><idno type="ISSN">0390-6078</idno><idno type="eISSN">1592-8721</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Anemia, Aplastic (diagnosis)</term><term>Anemia, Aplastic (etiology)</term><term>B-Lymphocytes (metabolism)</term><term>Biomarkers</term><term>Bone Marrow (metabolism)</term><term>Bone Marrow (pathology)</term><term>Bone Marrow Cells (metabolism)</term><term>Bone Marrow Cells (pathology)</term><term>Child</term><term>Child, Preschool</term><term>Diagnosis, Differential</term><term>GATA2 Transcription Factor (deficiency)</term><term>Humans</term><term>Immunophenotyping</term><term>Infant</term><term>Lymphocyte Count</term><term>Lymphopenia (diagnosis)</term><term>Mutation</term><term>Myelodysplastic Syndromes (diagnosis)</term><term>Myelodysplastic Syndromes (genetics)</term><term>Myeloid Cells (metabolism)</term><term>Phenotype</term><term>Precursor Cells, B-Lymphoid (metabolism)</term><term>ROC Curve</term><term>T-Lymphocyte Subsets (immunology)</term><term>T-Lymphocyte Subsets (metabolism)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Anémie aplasique (diagnostic)</term><term>Anémie aplasique (étiologie)</term><term>Cellules de la moelle osseuse (anatomopathologie)</term><term>Cellules de la moelle osseuse (métabolisme)</term><term>Cellules myéloïdes (métabolisme)</term><term>Courbe ROC</term><term>Diagnostic différentiel</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription GATA-2 (déficit)</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Lymphocytes B (métabolisme)</term><term>Lymphopénie (diagnostic)</term><term>Marqueurs biologiques</term><term>Moelle osseuse (anatomopathologie)</term><term>Moelle osseuse (métabolisme)</term><term>Mutation</term><term>Nourrisson</term><term>Numération des lymphocytes</term><term>Phénotype</term><term>Précurseurs lymphoïdes B (métabolisme)</term><term>Sous-populations de lymphocytes T (immunologie)</term><term>Sous-populations de lymphocytes T (métabolisme)</term><term>Syndromes myélodysplasiques (diagnostic)</term><term>Syndromes myélodysplasiques (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Biomarkers</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cellules de la moelle osseuse</term><term>Moelle osseuse</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Anemia, Aplastic</term><term>Lymphopenia</term><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anémie aplasique</term><term>Lymphopénie</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="etiology" xml:lang="en"><term>Anemia, Aplastic</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Syndromes myélodysplasiques</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Sous-populations de lymphocytes T</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>T-Lymphocyte Subsets</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>B-Lymphocytes</term><term>Bone Marrow</term><term>Bone Marrow Cells</term><term>Myeloid Cells</term><term>Precursor Cells, B-Lymphoid</term><term>T-Lymphocyte Subsets</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Cellules de la moelle osseuse</term><term>Cellules myéloïdes</term><term>Lymphocytes B</term><term>Moelle osseuse</term><term>Précurseurs lymphoïdes B</term><term>Sous-populations de lymphocytes T</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Bone Marrow</term><term>Bone Marrow Cells</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Anémie aplasique</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Diagnosis, Differential</term><term>Humans</term><term>Immunophenotyping</term><term>Infant</term><term>Lymphocyte Count</term><term>Mutation</term><term>Phenotype</term><term>ROC Curve</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Courbe ROC</term><term>Diagnostic différentiel</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Marqueurs biologiques</term><term>Mutation</term><term>Nourrisson</term><term>Numération des lymphocytes</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the <italic>GATA2</italic> mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a <italic>GATA2</italic> mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for <italic>GATA2</italic> mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Danemark</li><li>Pays-Bas</li><li>République tchèque</li><li>Slovaquie</li></country><region><li>Bade-Wurtemberg</li><li>Bohême centrale</li><li>District de Fribourg-en-Brisgau</li><li>Hollande-Méridionale</li><li>Moravie</li><li>Utrecht (province)</li></region><settlement><li>Brno</li><li>Fribourg-en-Brisgau</li><li>Prague</li><li>Rotterdam</li><li>Utrecht</li></settlement></list><tree><country name="République tchèque"><region name="Bohême centrale"><name sortKey="Novakova, Michaela" sort="Novakova, Michaela" uniqKey="Novakova M" first="Michaela" last="Nováková">Michaela Nováková</name></region><name sortKey=" Erna, Zde Ka" sort=" Erna, Zde Ka" uniqKey=" Erna Z" first="Zde Ka" last=" Erná">Zde Ka Erná</name><name sortKey="Campr, Vit" sort="Campr, Vit" uniqKey="Campr V" first="Vít" last="Campr">Vít Campr</name><name sortKey="Fro Kova, Eva" sort="Fro Kova, Eva" uniqKey="Fro Kova E" first="Eva" last="Fro Ková">Eva Fro Ková</name><name sortKey="Fro Kova, Eva" sort="Fro Kova, Eva" uniqKey="Fro Kova E" first="Eva" last="Fro Ková">Eva Fro Ková</name><name sortKey="Hrusak, Ond Ej" sort="Hrusak, Ond Ej" uniqKey="Hrusak O" first="Ond Ej" last="Hrušák">Ond Ej Hrušák</name><name sortKey="Hrusak, Ond Ej" sort="Hrusak, Ond Ej" uniqKey="Hrusak O" first="Ond Ej" last="Hrušák">Ond Ej Hrušák</name><name sortKey="Kalina, Tomas" sort="Kalina, Tomas" uniqKey="Kalina T" first="Tomáš" last="Kalina">Tomáš Kalina</name><name sortKey="Kuhn, Tomas" sort="Kuhn, Tomas" uniqKey="Kuhn T" first="Tomáš" last="Kuhn">Tomáš Kuhn</name><name sortKey="Lejhancova, Kate Ina" sort="Lejhancova, Kate Ina" uniqKey="Lejhancova K" first="Kate Ina" last="Lejhancová">Kate Ina Lejhancová</name><name sortKey="Mejst Kova, Ester" sort="Mejst Kova, Ester" uniqKey="Mejst Kova E" first="Ester" last="Mejst Ková">Ester Mejst Ková</name><name sortKey="Mejst Kova, Ester" sort="Mejst Kova, Ester" uniqKey="Mejst Kova E" first="Ester" last="Mejst Ková">Ester Mejst Ková</name><name sortKey="Pelkova, Vendula" sort="Pelkova, Vendula" uniqKey="Pelkova V" first="Vendula" last="Pelková">Vendula Pelková</name><name sortKey="Pospisilova, Dagmar" sort="Pospisilova, Dagmar" uniqKey="Pospisilova D" first="Dagmar" last="Pospíšilová">Dagmar Pospíšilová</name><name sortKey="Star, Jan" sort="Star, Jan" uniqKey="Star J" first="Jan" last="Star">Jan Star</name><name sortKey="Sukova, Martina" sort="Sukova, Martina" uniqKey="Sukova M" first="Martina" last="Suková">Martina Suková</name><name sortKey="Trka, Jan" sort="Trka, Jan" uniqKey="Trka J" first="Jan" last="Trka">Jan Trka</name><name sortKey="Trka, Jan" sort="Trka, Jan" uniqKey="Trka J" first="Jan" last="Trka">Jan Trka</name><name sortKey="Zaliova, Marketa" sort="Zaliova, Marketa" uniqKey="Zaliova M" first="Markéta" last="Žaliová">Markéta Žaliová</name><name sortKey="Zapletal, Ond Ej" sort="Zapletal, Ond Ej" uniqKey="Zapletal O" first="Ond Ej" last="Zapletal">Ond Ej Zapletal</name><name sortKey="Zemanova, Zuzana" sort="Zemanova, Zuzana" uniqKey="Zemanova Z" first="Zuzana" last="Zemanová">Zuzana Zemanová</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Wlodarski, Marcin" sort="Wlodarski, Marcin" uniqKey="Wlodarski M" first="Marcin" last="Wlodarski">Marcin Wlodarski</name></region><name sortKey="Janda, Ales" sort="Janda, Ales" uniqKey="Janda A" first="Aleš" last="Janda">Aleš Janda</name><name sortKey="Niemeyer, Charlotte" sort="Niemeyer, Charlotte" uniqKey="Niemeyer C" first="Charlotte" last="Niemeyer">Charlotte Niemeyer</name></country><country name="Slovaquie"><noRegion><name sortKey="Svec, Peter" sort="Svec, Peter" uniqKey="Svec P" first="Peter" last="Švec">Peter Švec</name></noRegion></country><country name="Danemark"><noRegion><name sortKey="Kerndrup, Gitte" sort="Kerndrup, Gitte" uniqKey="Kerndrup G" first="Gitte" last="Kerndrup">Gitte Kerndrup</name></noRegion></country><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Van Den Heuvel Eibrink, Marry" sort="Van Den Heuvel Eibrink, Marry" uniqKey="Van Den Heuvel Eibrink M" first="Marry" last="Van Den Heuvel-Eibrink">Marry Van Den Heuvel-Eibrink</name></region><name sortKey="Van Der Velden, Vincent" sort="Van Der Velden, Vincent" uniqKey="Van Der Velden V" first="Vincent" last="Van Der Velden">Vincent Van Der Velden</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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