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不典型严重联合免疫缺陷病 7 例诊治分析

  •  徐保平 ,
  • 贺建新 ,
  •  江载芳 ,
  •  刘钢 ,
  •  贾鑫磊 ,
  •  刘秀云 ,
  •  桂晋刚 ,
  •  陈兰勤 ,
  •  赵宇红 ,
  •  申昆玲
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  • 首都医科大学附属北京儿童医院(北京 100045)

收稿日期: 2018-03-15

  网络出版日期: 2018-03-15

基金资助

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)

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

  • XU Baoping ,
  •  HE Jianxin ,
  • JIANG Zaifang ,
  • LIU Gang ,
  • JIA Xinlei ,
  • LIU Xiuyun ,
  • GUI Jingang ,
  • CHEN Lanqin ,
  • ZHAO Yuhong ,
  • SHEN Kunling
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  • Beijing Children’s Hospital Affiliated to Capital Medical University, Beijing 100045, China)

Received date: 2018-03-15

  Online published: 2018-03-15

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>ACinsGGT;例2、 3、 4为IL2RG突变,分别为c. 865C>T/p.R289X、 c.664C>T/R222C、52delG;例5为杂合JAK3突变c.2150A>G/p.E717G、c.1915-2A>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。

本文引用格式

 徐保平 , 贺建新 ,  江载芳 ,  刘钢 ,  贾鑫磊 ,  刘秀云 ,  桂晋刚 ,  陈兰勤 ,  赵宇红 ,  申昆玲 . 不典型严重联合免疫缺陷病 7 例诊治分析[J]. 临床儿科杂志, 2018 , 36(3) : 202 . DOI: 10.3969/j.issn.1000-3606.2018.03.010

Abstract

 Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease (SCID). Methods The clinical data of atypical SCID in 7 children with IL2RG, JAK3, and RAG1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases (6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK3 mutation with c.3097-1G>A/ c.946-950GCGGA>ACinsGGT. Cases 2, 3, and 4 had IL2RG mutations, with c. 865C>T/ p.R289X, c.664C>T/R222C, 52delG, respectively. Case 5 had JAK3 mutations with c.2150A>G/p.E717G and c.1915-2A>G. Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N. Case 7 had homozygous RAG1 mutation with c.2095C>T/p.R699W. Conclusion Under certain conditions, gene mutation can lead to atypical clinical and/or immune phenotypic SCID.
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