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

Virol J. 2025 Apr 2;22(1):91. doi: 10.1186/s12985-025-02697-8.

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.

Keywords: Clinical features; Epidemiology; Gene; Inborn errors of immunity; Virus infection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Retrospective Studies
  • Virus Diseases* / epidemiology
  • Virus Diseases* / genetics
  • Virus Diseases* / virology