中国实用儿科杂志2017，Vol.32Issue(10)：764-767,4.DOI:10.19538/j.ek2017100611
淋巴细胞增生相关性免疫缺陷病10例临床表型及基因诊断分析
Clinical and genetic analysis of 10 patients with lymphocytosis-associated immunodeficiency disease
摘要
Abstract
Objective To investigate the clinical and genetic features of patients with lymphocytosis-associated immunodeficiency disease.Methods Clinical manifestations,immunological and genetic examinations,treatment and prognosis of patients with lymphocytosis-associated immunodeficiency disease were analyzed retrospectively.Results A total of 10 patients were included,whose median onset age was 3-year-8-month.All patients manifested as hepatosplenomegaly or lymphadenopathy.Seven of them had reduction of peripheral blood cell.Five patients had EBV viremia or infection.One patient suffered from recurrent respiratory tract infection with bronchiectasis.IgG levels (9.14-53.27 g/L) and B cell proportion (10.6％-78.8％) in all patients were normal or significantly increasing.Genetic analysis of all patients showed PIK3CD,FASL,NRAS,KRAS,Caspase10 or XIAP gene mutations.All patients received individudized treatment,and visited the Outpatient Department of Immunology regularly.Conclusion Lymphocytosis-associated immunodeficiency disease often manifests as unexplained hepatosplenomegaly or lymphadenopathy,accompanied by reduction of peripheral blood cells,EBV viremia or infection.Early genetic examination will help to improve the diagnosis of the disease and make individualized treatment for each patient.关键词
免疫缺陷病/淋巴细胞增生/肝脾肿大/EB病毒Key words
immunodeficiency disease/lymphocytosis/hepatosplenomegaly/EB virus分类
医药卫生引用本文复制引用
何庭艳,夏宇,齐中香,梁芳芳,贾实磊,杨军..淋巴细胞增生相关性免疫缺陷病10例临床表型及基因诊断分析[J].中国实用儿科杂志,2017,32(10):764-767,4.基金项目
国家卫生和计划生育委员会公益性行业科研专项(201402012) （201402012）
深圳市科技创新委员会深科技创新学科布局项目(20160428112111450) （20160428112111450）
