Serveur d'exploration sur le lymphœdème

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[GATA2 deficiency].

Identifieur interne : 006E56 ( Ncbi/Merge ); précédent : 006E55; suivant : 006E57

[GATA2 deficiency].

Auteurs : Shigeaki Nonoyama

Source :

RBID : pubmed:25509816

Descripteurs français

English descriptors

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:25509816

Le document en format XML

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<term>Killer Cells, Natural</term>
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<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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