原发性噬血细胞性淋巴组织细胞增生症遗传学研究进展  

Advances in hereditary research of primary hemophagocytic lymphohistiocytosis

作　　者：黄志卓(综述)[1] 谢正德(审校)[1] 申昆玲(审校)[1] 

机构地区：[1]首都医科大学附属北京儿童医院儿研所病毒室,100045

出　　处：《国际儿科学杂志》2011年第3期287-290,共4页International Journal of Pediatrics

基　　金：首都医学发展基金资助项目（2007-2062）

摘　　要：噬血细胞性淋巴组织细胞增生症（HLH）是一组以淋巴细胞、组织细胞增生伴噬血细胞增多而引起多脏器浸润及全血细胞减少为特征的威胁生命的综合征,分为原发性和继发性.原发性HLH主要包括家族性HLH和免疫缺陷综合征相关性HLH.目前家族性HLH可分为5型,免疫缺陷综合征相关性HLH包括Chediak-Higashi综合征、格里塞利综合征2和X连锁淋巴组织增殖性疾病.这些原发性HLH分别由不同的基因突变引起.随着原发性HLH遗传学、基因筛查和基因及其编码蛋白质的功能研究,人们对这些基因和蛋白质在HLH发病机制中的作用有了进一步的认识.Hemophagoeytie lymphohistioeytosis （HLH） is a life-threatening syndrome characterized by multiple organs infiltrations of lymphoeytes and histiocytes with proliferation and hemophagoeytie activity, and paneytopenia. HLH can be classified as either primary or secondary. Primary HLH includes familial HLH and immune deficiency syndromes associated HLH. Until now, familial HLH is classified into five types, whereas, immune deficiency syndromes associated HLH is divided into Chediak-Higashi syndrome, Griscelli syndrome 2, X-linked lymphoproliferative disease. Each primary HLH is induced by different gene mutations. Due to hereditary research of primary HLH, screening genetic defects and researches in functions of target genes and coding proteins, the effect of these genes and proteins in pathogenesis of HLH could be known further.

关 键 词：噬血细胞性淋巴组织细胞增生症 原发性 基因突变 

分 类 号：R551.2[医药卫生—血液循环系统疾病]