摘要 原发性免疫缺陷症(primary immunodeficiency,PID)是一组由免疫通路上特定功能性位点突变引起免疫调控异常的遗传性疾病,免疫性血小板减少为其常见表现,且病程迁延、反复,呈现慢性免疫性血小板减少状态。而免疫性血小板减少症(immune thrombocytopenic purpura,ITP)是儿童期最常见的出血性疾病,据统计近20%患儿会发展为慢性ITP(chronic ITP,CITP)。随着实验诊断技术的进步,发现实际上在儿童CITP中有近一半存在遗传性免疫异常,即相当比例是PID患者。但在CITP患儿中甄别PID较困难,特别是当患儿未出现感染、肿瘤等PID特征表现时。CITP中常见的较难甄别的PID有T细胞凋亡异常的自身免疫性淋巴细胞增生综合征(autoimmune lymphoproliferative syndrome,ALPS)、B细胞合成异常的普通变异型免疫缺陷病(common variable immunodeficiency,CVID)以及传递免疫信息脂筏异常的Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)。此外,仅携带有明确杂合致病基因突变患儿也易在临床中表现为"CITP"。从CITP患儿中甄别出PID将有利于及早开展有效的治疗管理,从而改善"CITP患儿"的不良预后。 Primary immunodeficiency(PID)is a group of genetic disorders caused by mutations in specific functional sites of immune pathways that result in abnormal immune regulation.Immune thrombocytopenia(ITP)is the common manifestation,and the course of disease is prolonged and repeated,showing a chronic immune thrombocytopenia state.ITP is the most common hemorrhagic disease in childhood.According to statistics,nearly 20%of children will develop chronic ITP(CITP).With the advancement of experimental diagnostic techniques,it is found that nearly half of the children with CITP have genetic immune abnormalities,which means a large proportion of them are PID patients.However,it is difficult to identify PID in CITP children,especially when there is no infection,tumor and other PID characteristics.The most common PIDs that are difficult to identify in CITP are autoimmune lymphoproliferative syndrome(ALPS)with abnormal T-cell apoptosis,common variant immunodeficiency disease(CVID)with abnormal B-cell synthesis,and Wiskott-Aldrich syndrome(WAS)with abnormal lipid rafts that transmit immune messages.In addition,it has been found that children who carry known disease-causing heterozygous mutations are also susceptible to the clinical manifestation of"CITP".Identifying PIDs in children with CITP will facilitate early and effective therapeutic management and improve the prognosis of children with CITP.
机构地区 首都医科大学附属北京儿童医院血液肿瘤科
出处 《中国实用儿科杂志》 CSCD 北大核心 2021年第2期94-99,共6页 Chinese Journal of Practical Pediatrics
关键词 慢性免疫性血小板减少症(CITP) 原发性免疫缺陷症(PID) 儿童 chronic immune thrombocytopenia(CITP) primary immunodeficiency child
分类号 R72 [医药卫生—儿科]
