[GATA2 deficiency].
Identifieur interne : 006E56 ( Ncbi/Merge ); précédent : 006E55; suivant : 006E57[GATA2 deficiency].
Auteurs : Shigeaki NonoyamaSource :
- Nihon rinsho. Japanese journal of clinical medicine [ 0047-1852 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- déficit : Facteur de transcription GATA-2.
- étiologie : Infections à Mycobacterium, Leucopénie, Lymphoedème.
- Animaux, Cellules dendritiques, Cellules tueuses naturelles, Humains, Lymphocytes B, Monocytes, Souris.
English descriptors
- KwdEn :
- MESH :
- chemical , deficiency : GATA2 Transcription Factor.
- etiology : Leukopenia, Lymphedema, Mycobacterium Infections.
- Animals, B-Lymphocytes, Dendritic Cells, Humans, Killer Cells, Natural, Mice, Monocytes.
Abstract
GATA2 is a transcription factor that is involved in the lympho-hematopoiesis. Mutations of GATA2 cause MonoMAC syndrome (monocytopenia and mycobacterial infections)/DCML deficiency (dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency), Emberger syndrome (lymphoedema with MDS), and MDS/AML. In this review, we explain the new function of GATA2, and describe the clinical phenotypes, laboratory findings, pathology, genetic anomalies and etiology.
PubMed: 25509816
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pubmed:25509816Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>B-Lymphocytes</term>
<term>Dendritic Cells</term>
<term>GATA2 Transcription Factor (deficiency)</term>
<term>Humans</term>
<term>Killer Cells, Natural</term>
<term>Leukopenia (etiology)</term>
<term>Lymphedema (etiology)</term>
<term>Mice</term>
<term>Monocytes</term>
<term>Mycobacterium Infections (etiology)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Cellules dendritiques</term>
<term>Cellules tueuses naturelles</term>
<term>Facteur de transcription GATA-2 (déficit)</term>
<term>Humains</term>
<term>Infections à Mycobacterium (étiologie)</term>
<term>Leucopénie (étiologie)</term>
<term>Lymphocytes B</term>
<term>Lymphoedème (étiologie)</term>
<term>Monocytes</term>
<term>Souris</term>
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<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GATA2 Transcription Factor</term>
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<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Facteur de transcription GATA-2</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Leukopenia</term>
<term>Lymphedema</term>
<term>Mycobacterium Infections</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Infections à Mycobacterium</term>
<term>Leucopénie</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>B-Lymphocytes</term>
<term>Dendritic Cells</term>
<term>Humans</term>
<term>Killer Cells, Natural</term>
<term>Mice</term>
<term>Monocytes</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Animaux</term>
<term>Cellules dendritiques</term>
<term>Cellules tueuses naturelles</term>
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<front><div type="abstract" xml:lang="en">GATA2 is a transcription factor that is involved in the lympho-hematopoiesis. Mutations of GATA2 cause MonoMAC syndrome (monocytopenia and mycobacterial infections)/DCML deficiency (dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency), Emberger syndrome (lymphoedema with MDS), and MDS/AML. In this review, we explain the new function of GATA2, and describe the clinical phenotypes, laboratory findings, pathology, genetic anomalies and etiology.</div>
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<Abstract><AbstractText>GATA2 is a transcription factor that is involved in the lympho-hematopoiesis. Mutations of GATA2 cause MonoMAC syndrome (monocytopenia and mycobacterial infections)/DCML deficiency (dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency), Emberger syndrome (lymphoedema with MDS), and MDS/AML. In this review, we explain the new function of GATA2, and describe the clinical phenotypes, laboratory findings, pathology, genetic anomalies and etiology.</AbstractText>
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