[GATA2缺乏症]
[GATA2 deficiency].
作者信息
Nonoyama Shigeaki
出版信息
Nihon Rinsho. 2014 Oct;72(10):1861-9.
PMID:25509816
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.
摘要
GATA2是一种参与淋巴细胞生成的转录因子。GATA2突变会导致单核细胞减少症和分枝杆菌感染综合征（MonoMAC综合征）/树突状细胞、单核细胞、B细胞和自然杀伤（NK）淋巴细胞缺陷（DCML缺陷）、恩伯格综合征（伴有骨髓增生异常综合征的淋巴水肿）以及骨髓增生异常综合征/急性髓系白血病（MDS/AML）。在本综述中，我们阐述了GATA2的新功能，并描述了其临床表型、实验室检查结果、病理学、基因异常及病因。
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