Zhang Haiqiao, Wang Wenjie, Zhou Qinhua, Hou Jia, Ying Wenjing, Hui Xiaoying, Sun Jinqiao, Liu Lipin, Liu Luyao, Wang Chenhao, Zhang Hai, Sun Bijun, Wang Xiaochuan
Shanghai Institute of Infectious Disease and Biosecurity, Fudan University, Shanghai, China.
Department of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Virol J. 2025 Apr 2;22(1):91. doi: 10.1186/s12985-025-02697-8.
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.
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.
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.
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.
尽管病毒感染是先天性免疫缺陷（IEIs）患者常见的临床表现之一，但对于IEIs患者病毒感染的流行病学、易感基因和临床状况知之甚少。
收集并分析了2016年1月至2022年12月期间接受病毒检测的931例IEI患者的人口统计学信息、临床诊断和实验室检查结果。
共有47.15%（439/931）的IEI患者在住院期间至少有一种病毒检测呈阳性。研究期间共有640次病毒感染，主要来自EBV 131次（20.47%）、HRV 102次（15.94%）、CMV 100次（15.63%）和RV 84次（13.13%）。CMV和RV感染在婴儿期的联合免疫缺陷（IEI_I）组中更为常见，而EBV感染在学龄前的免疫失调（IEI_IV）组中更为常见。SH2D1A（57.14%）、PIK3CD（56.41%）和LRBA（50%）的突变使个体易患EBV感染；WAS（30%）的突变使个体易患CMV感染；IL2RG（56.52%）和RAG1（37.5%）的突变使个体易患RV感染。Joinpoint分析揭示了不同年份病毒阳性率的趋势。
这些数据表明，通过考虑感染年龄、IEI类型和突变基因，针对感染病毒的IEI患者进行预防、治疗和管理是可行的，但需要特别关注婴儿期IEI_I和IEI_IV患者的病毒感染。
