Immunological features of a patient with CHARGE syndrome caused by the CHD7 gene c.5122C＞T nonsense mutation
10.13431/j.cnki.immunol.j.20250014
- VernacularTitle:CHD7基因c.5122C＞T无义突变致患儿CHARGE综合征的免疫特征分析
- Author:
Chenlin LI
1
;
Xin CHEN
1
;
Qing LIU
1
;
Ran CHEN
1
;
Wenli HE
1
;
Lin TONG
1
;
Yulin LI
1
;
Zhengxia PAN
1
;
Yunfei AN
1
;
Lu ZHAO
1
Author Information
1. 400014,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儿童感染与免疫罕见病重庆市重点实验室
- Publication Type:Journal Article
- Keywords:
CHARGE syndrome;
CHD7;
Inborn errors of immunity;
Immunological features
- From:
Immunological Journal
2025;41(2):97-102,122
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.
