Characterization of the epidemiology, susceptibility genes and clinical features of viral infections among children with inborn immune errors: a retrospective study.

IF 4 3区医学 Q2 VIROLOGY Virology Journal Pub Date : 2025-04-02 DOI:10.1186/s12985-025-02697-8

Haiqiao Zhang, Wenjie Wang, Qinhua Zhou, Jia Hou, Wenjing Ying, Xiaoying Hui, Jinqiao Sun, Lipin Liu, Luyao Liu, Chenhao Wang, Hai Zhang, Bijun Sun, Xiaochuan Wang

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Abstract

Background: Although viral infections are one of the common clinical manifestations in patients with inborn errors of immunity (IEIs), little is known about the epidemiology, susceptibility genes, and clinical status of viral infections in patients with IEIs.

Methods: The demographic information, clinical diagnoses, and laboratory findings of 931 IEI patients who underwent viral testing from January 2016 to December 2022 were collected and analyzed.

Results: In total, 47.15% (439/931) patients with IEI tested positive for at least one virus during hospitalization. There were a total of 640 viral infections during the study period, mainly from EBV 131 (20.47%), HRV 102(15.94%), CMV 100(15.63%), and RV 84(13.13%). CMV and RV infections were more common in the combined immunodeficiencies (IEI_I) group during the infant stage, whereas EBV infection was more common in the immune dysregulation (IEI_IV) group during the preschool stage. Mutations in SH2D1A (57.14%), PIK3CD (56.41%) and LRBA (50%) make individuals susceptible to EBV infection; mutations in WAS (30%) make individuals susceptible to CMV infection; and mutations in IL2RG (56.52%) and RAG1 (37.5%) make individuals susceptible to RV infection. Joinpoint analysis revealed trends in viral positivity in different years.

Conclusion: These data suggest that it is possible to target the prevention, treatment, and management of IEI patients who are infected with a virus by accounting for the age at infection, type of IEI, and mutant genes, but special attention needs to be paid to viral infections in IEI_I and IEI_IV patients during the infant stage.

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先天性免疫错误儿童病毒感染的流行病学、易感基因和临床特征的回顾性研究

背景：病毒感染是先天性免疫缺陷（IEIs）患者常见的临床表现之一，但对其流行病学、易感基因及临床状况了解甚少。方法：收集2016年1月至2022年12月931例IEI患者进行病毒检测的人口学信息、临床诊断和实验室结果进行分析。结果：47.15% (439/931)IEI患者住院期间至少有一种病毒检测呈阳性。研究期间共发生640例病毒感染，主要为EBV 131（20.47%）、HRV 102（15.94%）、CMV 100（15.63%）和RV 84（13.13%）。CMV和RV感染在婴幼儿期联合免疫缺陷（IEI_I）组中更为常见，而EBV感染在学龄前免疫失调（IEI_IV）组中更为常见。SH2D1A（57.14%）、PIK3CD（56.41%）和LRBA（50%）突变使个体易受EBV感染；WAS突变（30%）使个体易受巨细胞病毒感染；IL2RG（56.52%）和RAG1（37.5%）突变使个体易受RV感染。联合点分析揭示了不同年份的病毒阳性趋势。结论：从感染年龄、IEI类型和突变基因等方面对感染病毒的IEI患者进行针对性的预防、治疗和管理是可能的，但需要特别注意婴幼儿期IEI_I和IEI_IV患者的病毒感染。

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来源期刊

Virology Journal 医学-病毒学

CiteScore

7.40

自引率

2.10%

发文量

186

审稿时长

1 months

期刊介绍： Virology Journal is an open access, peer reviewed journal that considers articles on all aspects of virology, including research on the viruses of animals, plants and microbes. The journal welcomes basic research as well as pre-clinical and clinical studies of novel diagnostic tools, vaccines and anti-viral therapies. The Editorial policy of Virology Journal is to publish all research which is assessed by peer reviewers to be a coherent and sound addition to the scientific literature, and puts less emphasis on interest levels or perceived impact.