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摘要: 目的:探讨GATA2缺陷的临床表型、遗传学特点、治疗及预后。方法:报道2例典型的GATA2缺陷患者,总结他们的临床表现、基因变异特点及治疗转归,并进行文献复习。结果:2例GATA2缺陷患者均存在胚系GATA2变异,1例为家族遗传,1例为自发突变,临床表现主要包括骨髓增生异常综合征/急性髓系白血病易感性,免疫缺陷,血管/淋巴管功能不良等。2例目前均存活,其中1例经异基因造血干细胞移植后目前无白血病生存。结论:GATA2缺陷临床表型呈多样性,共同遗传学基础为胚系GATA2基因杂合变异,异基因造血干细胞移植是唯一治愈手段。Abstract: Objective:To explore the clinical features,genetic basis,treatment and prognosis of GATA2 deficiency.Methods:We reported two cases of classical GATA2 deficiency.The clinical characteristics,genetic mutations,treatment and outcomes of the two cases were summarized,and relative literatures were reviewed.Results:Both of the two cases harbored germline mutations in GATA2 gene.One case was sporadic mutation and the other was familial inheritance.The clinical manifestations included immunodeficiency,susceptibility to myelodysplastic syndrome/acute myeloid leukemia,vascular/lymphatic dysfunction and others.They were both alive with one being leukemia-free after allogeneic hematopoietic stem cell transplantation.Conclusion:GATA2 deficiency is identified with a broad spectrum of clinical manifestations.Heterozygous germ line mutations in GATA2 are the genetic basis.Allogeneic hematopoietic stem cell transplantation is the only curable means.
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Key words:
- GATA2 /
- GATA2 deficiency
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