中国实用儿科杂志

中国实用儿科杂志 ›› 2026, Vol. 41 ›› Issue (1): 84-88.DOI: 10.19538/j.ek2026010616

• 病例报告 • 上一篇    

SAMD9基因突变致MIRAGE综合征合并免疫缺陷1例

  

  1. 重庆医科大学附属儿童医院风湿免疫科  国家儿童健康与疾病临床医学研究中心  儿童发育疾病研究教育部重点实验室  感染与免疫罕见病重庆市重点实验室，重庆  400000
  • 出版日期:2026-01-06 发布日期:2026-03-02
  • 通讯作者: 陶静，电子信箱：497414228@qq.com；安云飞，电子信箱：anyf82@aliyun.com
  • 基金资助:
    重庆市自然科学基金创新发展联合基金（CSTB2024NSCOLZX0100）；重庆医科大学附属儿童医院学科登峰计划临床研究专项揭榜挂帅项目（CHCMU-2024-XKDF-1001）

A case of MIRAGE syndrome with immunodeficiency caused by a SAMD9 gene mutation

  1. Department of Rheumatology，Children’s Hospital of Chongqing Medical University，National Clinical Research Center for Child Health and Disorder，Ministry of Education Key Laboratory of Child Development and Disorder，Chongqing KEY Laboratory of Child Rare Diseases in Infection and Immunity，Chongqing  400000，China
  • Online:2026-01-06 Published:2026-03-02

摘要： 回顾2024-12-23重庆医科大学附属儿童医院风湿免疫科收治的1例SAMD9基因Arg1293Trp突变致MIRAGE综合征患儿资料，分析其临床及实验室检查结果。患儿女，4月龄，以反复肺部感染入院，临床特点有喉软骨发育不良、肾上腺功能不全、胃食管反流和肠道扩张，结合基因测序结果，确诊为MIRAGE综合征。结合已报道的其他5例Arg1293Trp突变患儿免疫学特征分析其死亡结局的原因。造血干细胞移植治疗或许为该患儿晚期惟一的治疗方案。

关键词:

Abstract: The clinical data and laboratory findings of a 4-month-old female infant with MIRAGE syndrome caused by a SAMD9 Arg1293Trp mutation were collected，who was admitted to Department of Rheumatology，Children’s Hospital of Chongqing Medical University on De.23，2024，and her clinical and laboratory results were analyzed. The patient visited the hospital for recurrent pulmonary infection，and the clinical manifestations included laryngomalacia，adrenal insufficiency，gastroesophageal reflux，and intestinal dilation.A diagnosis of MIRAGE syndrome was confirmed based on these clinical features and the results of gene sequencing. Based on the immunological profiles of the other five previously reported cases with the same Arg1293Trp mutation，the causes of death were analyzed. Hematopoietic stem cell transplantation may be the only treatment option for this patient in the later stages of the disease.

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