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Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation.

作者信息

Yetgin S, Olcay L, Koç A, Germeshausen M

出版信息

Leukemia. 2008 Sep;22(9):1797. doi: 10.1038/leu.2008.64. Epub 2008 Mar 20.

DOI:10.1038/leu.2008.64
PMID:18354489
Abstract
摘要

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Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation.一名患有HAX1突变且未接受粒细胞集落刺激因子(G-CSF)治疗或无G-CSF受体突变的患者,其严重先天性中性粒细胞减少症转化为早期急性淋巴细胞白血病。
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Haematologica. 2021 May 1;106(5):1311-1320. doi: 10.3324/haematol.2019.240200.
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Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).科斯特曼病与HCLS1相关蛋白X-1(HAX1)
J Clin Immunol. 2017 Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2. Epub 2016 Dec 10.
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CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.CLPB基因突变会导致3-甲基戊二酸尿症、进行性脑萎缩、智力障碍、先天性中性粒细胞减少症、白内障和运动障碍。
Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.
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Congenital neutropenia: diagnosis, molecular bases and patient management.先天性中性粒细胞减少症:诊断、分子基础和患者管理。
Orphanet J Rare Dis. 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26.