临床输血与检验2025，Vol.27Issue(3)：401-407,7.DOI:10.3969/j.issn.1671-2587.2025.03.019
先天性ZBTB24基因突变致ICF综合征2型的诊断和造血干细胞联合脐血移植成功治疗一例分析
Diagnosis of ICF Syndrome Type 2 Caused by Congenital ZBTB24 Gene Mutation and Successful Treatment with Hematopoietic Stem Cell Combined Cord Blood Transplantation:A Case Analysis
顾静文 1程杰 1高珊 1查巍 1陈天平 1刘洪军1
作者信息
- 1. 安徽省儿童医院血液肿瘤科,安徽 合肥 230022
- 折叠
摘要
Abstract
Objective To investigate the treatment and the changes of T lymphocytes before and after transplantation in a child of immunodeficiency-centromeric instability-facial abnormal syndrome type 2 caused by the ZBTB24 gene mutation.Methods The clinical manifestations,laboratory indicators,genetic test results,the process of hematopoietic stem cell transplantation,post-transplantation genetic verification results and follow-up were retrospectively analyzed.T lymphocytes and immunoglobulin before and after transplantation were analyzed by flow cytometry.Results This case is the first child with ICF syndrome type 2 in China to undergo hematopoietic stem cell transplantation.After transplantation,granulocyte engraftment occurred at+11 d and platelet engraftment at+34 d.Laboratory tests at+70 days showed normal expression of IgA,IgG,and IgM.At+177 days,the absolute count of lymphocyte subsets indicated that T lymphocytes had returned to normal.The primary pulmonary infection was controlled,and the viral infection turned negative.No new infections were observed during one-year follow-up.Before transplantation,T lymphocytes count and immunoglobulin expression were significantly decreased,and returned to normal after transplantation.Conclusion The possibility of immunodeficiency caused by gene mutation should be considered for children with recurrent infection at early age,accompanied by facial abnormalities,growth and/or intellectual developmental delay.And timely ICF gene testing should be tested.For those with severe combined immunodeficiency,allogeneic hematopoietic stem cell transplantation should be performed as early as possible.关键词
ZBTB24基因/ICF综合征/免疫缺陷-着丝粒不稳定-面部异常综合征2型/T淋巴细胞Key words
ZBTB24 Gene/ICF syndrome/Immunodeficiency-centromeric instability-facial anomalies syndrome type 2/T lymphocyte分类
医药卫生引用本文复制引用
顾静文,程杰,高珊,查巍,陈天平,刘洪军..先天性ZBTB24基因突变致ICF综合征2型的诊断和造血干细胞联合脐血移植成功治疗一例分析[J].临床输血与检验,2025,27(3):401-407,7.
