RAG1 mutation with cytopenia as the first manifestation:a case report and literature review
HUANG Ya-ju
YANG Lu
CHEN Jun-jie
WEN Wen
ZHANG Zhi-yong
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.
Keywords：recombinantion activating geneatypical severe combined immunodeficiencycytopeniaautoimmunehematopoietic stem cell transplantation
Publication Date：2025-01-05
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 73-77 )