中国实用儿科杂志2025，Vol.40Issue(1)：73-77,5.DOI:10.19538/j.ek2025010612
以血细胞减少症为首发表现的1例RAG1突变并文献复习
RAG1 mutation with cytopenia as the first manifestation:a case report and literature review
摘要
Abstract
To investigate the clinical and immunological characteristics of a child with atypical severe combined immunodeficiency caused by RAG1 mutation by analyzing the clinical data,TREC/KRECs content,refined immune typingand TCR Vβ subfamily clonal patterns of the child,who was admitted to Children's Hospital of Chongqing Medical University on July 3,2020.This was an 8-month-old girl who presented with AIHA and ITP as first symptoms,accompanied by fever and diarrhea.Immunological analysis revealed a T-B+NK-phenotype,and TREC/KREC content was significantly lower than normal.The TCR Vβ subfamilies mostly showed monoclonal peaks.After steroid pulse therapy,intravenous immunoglobulin,eltrombopag and mycophenolate mofetil,there was no obvious effect.While waiting for transplantation,the patient died of intracerebral hemorrhage due to intractable thrombocytopenia.The clinical manifestations of immune deficiency disorders caused by RAG1/RAG2 gene mutation are various,especially when autoimmune hemocytopenia is the first symptom,which makes it very likely to have missed or delayed diagnosis;moreover,the treatment effect is not good.Early identification and diagnosis and timely stem cell transplantation may reduce mortality.关键词
重组激活基因/不典型重症联合免疫缺陷/血细胞减少症/自身免疫/造血干细胞移植Key words
recombinantion activating gene/atypical severe combined immunodeficiency/cytopenia/autoimmune/hematopoietic stem cell transplantation分类
医药卫生引用本文复制引用
黄雅菊,杨露,陈俊杰,温雯,张志勇..以血细胞减少症为首发表现的1例RAG1突变并文献复习[J].中国实用儿科杂志,2025,40(1):73-77,5.基金项目
重庆市2019年研究生导师团队(重庆医科大学儿童免疫学)[渝教研发(2019)9号] （重庆医科大学儿童免疫学）
