[GATA2 deficiency].
Identifieur interne : 002293 ( Main/Exploration ); précédent : 002292; suivant : 002294[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
Affiliations:
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Le document en format XML
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