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先天性中性粒细胞减少症的研究进展 被引量：4

Research Progress of Congenital Neutropenia
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摘要 先天性中性粒细胞减少症是一组异质性疾病,重型先天性中性粒细胞减少症(SCN)自发现至今已有50余年。近年来的一系列研究已在分子水平上阐明了某些患者的发病机制,如SCN中最常见的ELA2基因突变及其引发的未折叠蛋白反应;HAX1、GFI1、WAS等基因突变所致SCN等。这使先天性中性粒细胞减少症患者的进一步分型诊断成为可能,从而为今后相应的靶向治疗提供了理论依据。 Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits.Severe congenital neutropenia（SCN）has been discovered for over five decades.In recent years,a series of molecular studies identified the pathomechanisms in some patients,such as mutations in ELA2 gene that is most frequently occurring and causing unfolded protein response,HAX1,GFI1,and WAS.Such findings make it possible to further classify congenital neutropenia and serve as the theoretical foundation for prospective targeted therapy.
作者 陈森 乔丽津
机构地区 天津市儿童医院血液科
出处 《医学综述》 2010年第24期3743-3746,共4页 Medical Recapitulate
关键词 先天性中性粒细胞减少症 ELA2基因 未折叠蛋白反应 Congenital neutropenia ELA2 gene Unfold protein response
分类号 R557.1 [医药卫生—血液循环系统疾病]
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参考文献27

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同被引文献30

  • 1Klein C. Genetic defects in severe congenital neutrepenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev lmmunol, 2011,29:399-413.
  • 2Alister CW, David CD. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol, 2009, 16:9-13.
  • 3Zeidler C, Boxer L, Dale D, et al. Management of Kostmann syndrome in the G-CSF era. Br J Haematol, 2000, 109:490-495.
  • 4Rosenberg PS, Zeidler C, Bolyard AA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol, 2010, 150:196-199.
  • 5Choil SW, Boxer IA, Pulsipher MA, et al. Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation. Bone Marrow Transplant, 2005, 35:473-477.
  • 6Janes AC, Sung WC, John EL. Hematopoietie stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol, 2012, 19 : 44-51.
  • 7Thachil J, Caswell M, Bolton-Maggs PH, et al. Non-myeloablative transplantation for severe congenital neutropenia. Pediatr Blood Cancer, 2008, 50:920-921.
  • 8Carlsson G, Winiarski J, Ljungman P, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatr Blood Cancer, 2011, 56:444-451.
  • 9Sung WC, John L. Indications for hematopoietic cell transplantation for children with severe congenital neutropenia. Pediatr Transplant, 2010, 14: 937-939.
  • 10Klein C.Genetic defects in severe congenital neutropenia:emerging insights into life and death of human neutrophil granulocytes.Annu Rev Immunol,2011,29:399-413.

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医学综述
2010年 第24期

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