中国实用儿科杂志

中国实用儿科杂志

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重组活化因子1基因突变所致不同临床表型严重联合免疫缺陷病3例分析

贺建新a，王荃b，朱光华c，赵宇红a，肖婧d，刘秀云a，徐保平a，申昆玲a，江载芳a   

  1. 作者单位：首都医科大学附属北京儿童医院 a呼吸中心，b急救中心，c血液中心，d中心实验室，北京 100045
  • 出版日期:2014-10-06 发布日期:2014-10-08
  • 基金资助:

    2011年国家临床重点专科项目；首都医科大学附属北京儿童医院小儿呼吸专科项目［卫办医政函（2011）873号］

Variable clinical phenotypes of severe combined immunodeficiency caused by RAG1 mutations.

HE Jian-xin**，WANG Quan，ZHU Guang-hua，ZHAO Yu-hong，XIAO Jing，LIU Xiu-yun，XU Bao-ping，SHEN Kun-ling，JIANG Zai-fang.   

  1. *Respiration Center，Beijing Children’s Hospital，Beijing 100045，China
  • Online:2014-10-06 Published:2014-10-08

摘要：

目的 总结分析重组活化因子（RAG）1基因突变所致严重联合免疫缺陷病（SCID）的不同临床及免疫特点。 方法 2012年9月至2013年4月首都医科大学附属北京儿童医院收治的3例SCID患儿，经RAG1基因突变分析获得明确诊断，经HLA配型方法除外母体T淋巴细胞经胎盘输注，经细胞遗传学方法判断淋巴细胞增殖功能。结果 病例1表型为经典SCID，病例2表型为Omenn综合征，病例3为伴反复自身免疫性溶血性贫血的非典型SCID。RAG1基因突变分析结果，病例1复合杂合位点1：1870 C＞T，Arg624Cys；位点2：2005 G＞A，Glu669Lys。位点1为已报道突变，位点2为新发现的错义突变。病例2复合杂合位点1：994 C＞T，Arg332X；位点2：1439 G＞A，Ser480Asn。均为新发现突变。病例3纯合2095 C＞T，R699W，为已报道突变。前两例患儿均于自动出院后不久夭折，后者仍处于反复住院治疗自身免疫性溶血性贫血过程中。结论 RAG1突变所致SCID临床表现有差异，经典SCID和Omenn综合征预后严重，需移植治疗。

关键词: 重组活化因子1基因, 严重联合免疫缺陷病, Omenn综合征, 自身免疫性溶血性贫血

Abstract:

Abstract： Objective To investigate the different clinical and immune features of variable phenotypes of severe combined immunodeficiency caused by RAG 1 mutations.Methods From 2012.9 to 2013.04， three patients were included in the study，and records of clinical details were reviewed. Results The phenotypes of three patients were typical SCID for patient 1，Omenn syndrome for patient 2 and atypical SCID complicated with recurrent autoimmune hemolytic anemia for patients 3，respectively.RAG 1 mutations were compound heterozygous allele 1：1870 C＞T/Arg624Cys，allele 2：2005 G＞A/Glu669Lys（allele 1 was published mutation，allele 2 was de novel mutation） for patient 1；compound heterozygous allele 1：994 C＞T/Arg332X，allele 2：1439 G＞A/Ser480Asn（both mutations were de novel mutations）for patient 2；homozygous 2095 C＞T/R699W for patient 3 and was published mutation. First two patients died soon after discharge.Patient 3 was treated for recurrent autoimmune hemolytic anemia in our ward.Conclusion RAG1 mutations can lead to variable SCID phenotypes.Patients with typical SCID and Omenn syndrome were with poor prognosis，which need transplantation treatment.

Key words: RAG1 gene, severe combined immunodeficiency disease, Omenn syndrome, autoimmune hemolytic anemia

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