不典型严重联合免疫缺陷病7例诊治分析  

Diagnosis and treatment of atypical severe combined immunodeficiency disease in 7 children

作　　者：贺建新[1] 陈兰勤[1] 赵宇红[1] 贾鑫磊[1] 刘钢[1] 徐保平[1] 刘秀云[1] 桂晋刚[1] 申昆玲[1] 江载芳[1] HE Jianxin;CHEN Lanqin;ZHAO Yuhong;JIA Xinlei;LIU Gang;XU Baoping;LIU Xiuyun;GUI Jingang;SHEN Kunling;JIANG Zaifang(Beijing Children’s Hospital Affiliated to Capital Medical University,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院,北京100045

出　　处：《临床儿科杂志》2018年第3期202-206,共5页Journal of Clinical Pediatrics

基　　金：首都医科大学附属北京儿童医院小儿呼吸专科项目(No.卫办医政函[2011]873号)

摘　　要：目的探讨不典型严重联合免疫缺陷病(SCID)的诊断和治疗。方法回顾分析2012年9月-2017年6月证实为IL2RG、JAK3和RAG1突变的7例不典型SCID患儿的临床资料。结果 7例患儿中,婴儿5例,幼儿及学龄期儿童各1例;6例为男性、1例为女性。例2、4、6为经典SCID临床表型,例1、3、5、7为不典型SCID临床表型,例6临床诊断Omenn综合征。例2、5为经典SCID免疫表型,例1、3、4、6、7为不典型SCID免疫表型,例1有母体嵌合。二代测序提示,例1为复合杂合JAK3突变c.3097-1G>A/c.946-950GCGGA>ACins GGT;例2、3、4为IL2RG突变,分别为c.865C>T/p.R289X、c.664 C>T/R 222 C、52 del G;例5为杂合JAK 3突变c.2150 A>G/p.E 717 G、c.1915-2 A>G。Sanger测序提示,例6为复合杂合的RAG1突变c.994C>T/p.R332X、c.1439G>A/p.S480N;例7为纯合的RAG1突变c.2095C>T/p.R699W。结论 SCID基因突变在一定情况下可导致不典型的临床和/或免疫表现。Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease(SCID).Methods The clinical data of atypical SCID in7children with IL2RG,JAK3,and RAG1mutations were reviewed and analyzed from September2012to June2017.Results In7cases(6males and1female),there were5infants,1toddler and1school-age child.Cases2,4,and6were classic SCID clinical phenotypes.Cases1,3,5,7were atypical SCID clinical phenotypes.Case6were diagnosed with Omenn syndrome.Cases2,5were classic SCID immune phenotypes,cases1,3,4,6,7were atypical SCID immune phenotypes,and case1had maternal chimera.The next generation sequencing indicated that case1had a compound heterozygous JAK3mutation with c.3097-1G>A/c.946-950GCGGA>ACinsGGT.Cases2,3,and4had IL2RG mutations,with c.865C>T/p.R289X,c.664C>T/R222C,52delG,respectively.Case5had JAK3mutations with c.2150A>G/p.E717G and c.1915-2A>G.Sanger sequencing indicated that case6had a RAG1mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N.Case7had homozygous RAG1mutation with c.2095C>T/p.R699W.Conclusion Under certain conditions,gene mutation can lead to atypical clinical and/or immune phenotypic SCID.

关 键 词：严重联合免疫缺陷病 基因 儿童 

分 类 号：R725.9[医药卫生—儿科]