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体细胞 GATA2 突变能否模拟种系 GATA2 突变？

Can somatic GATA2 mutation mimic germ line GATA2 mutation?

机构信息

Department of Haematology, Royal Free London National Health Service (NHS) Trust, London, United Kingdom.

UCL Haematology, University College London, London, United Kingdom.

出版信息

Blood Adv. 2018 Apr 24;2(8):904-908. doi: 10.1182/bloodadvances.2017012617.

DOI:10.1182/bloodadvances.2017012617
PMID:29669757
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5915999/
Abstract

Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.

摘要

患者患有骨髓增殖性肿瘤，伴体细胞 GATA2 突变，表现为免疫缺陷和肺泡蛋白沉积症。

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本文引用的文献

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In vivo T-depleted reduced-intensity transplantation for -related immune dysfunction.体内 T 细胞耗竭的降低强度移植治疗与免疫功能障碍相关的疾病。
Blood. 2018 Mar 22;131(12):1383-1387. doi: 10.1182/blood-2017-10-811489. Epub 2018 Jan 2.
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Pulmonary Alveolar Proteinosis Syndrome.肺泡蛋白沉积症综合征
Clin Chest Med. 2016 Sep;37(3):431-40. doi: 10.1016/j.ccm.2016.04.006. Epub 2016 Jun 17.
3
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.儿童和青少年 GATA2 相关性骨髓增生异常综合征的患病率、临床特征和预后。
Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23.
4
GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.患有严重肺泡蛋白沉积症和血液系统疾病的儿童及成人中的GATA2缺乏症。
BMC Pulm Med. 2015 Aug 12;15:87. doi: 10.1186/s12890-015-0083-2.
5
GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.GATA2与家族性骨髓增生异常综合征及儿童髓系恶性肿瘤中的继发突变
Haematologica. 2015 Oct;100(10):e398-401. doi: 10.3324/haematol.2015.127092. Epub 2015 May 28.
6
Haematopoietic and immune defects associated with GATA2 mutation.与GATA2突变相关的造血和免疫缺陷。
Br J Haematol. 2015 Apr;169(2):173-87. doi: 10.1111/bjh.13317. Epub 2015 Feb 23.
7
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.非清髓性异基因造血干细胞移植治疗GATA2缺陷症
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8
Secondary pulmonary alveolar proteinosis complicating myelodysplastic syndrome results in worsening of prognosis: a retrospective cohort study in Japan.继发于骨髓增生异常综合征的肺朗格汉斯细胞组织细胞增生症导致预后恶化：日本的一项回顾性队列研究。
BMC Pulm Med. 2014 Mar 5;14:37. doi: 10.1186/1471-2466-14-37.
9
Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms.骨髓增殖性肿瘤体细胞突变的克隆进化及其临床相关性。
Blood. 2014 Apr 3;123(14):2220-8. doi: 10.1182/blood-2013-11-537167. Epub 2014 Jan 29.
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The evolution of cellular deficiency in GATA2 mutation.GATA2 突变导致的细胞缺陷的演变。
Blood. 2014 Feb 6;123(6):863-74. doi: 10.1182/blood-2013-07-517151. Epub 2013 Dec 17.