Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric

Anna Deguet1, Marie-Gabrielle Vigue2, Claire Lozano3

  • 1Department of Pediatrics, CHU Montpellier, Hôpital Arnaud de Villeneuve, 371 avenue du Doyen Gaston Giraud, 34295, Montpellier Cedex 5, France. a-deguet@chu-montpellier.fr.

Scientific Reports
|July 2, 2025
PubMed

Insights

Implementing primary immunodeficiency disease (PID) screening after severe infections in children is feasible and reveals a significant prevalence of PIDs. Early detection through systematic investigation improves patient outcomes.

Area of Science:

  • Pediatric critical care medicine
  • Clinical immunology
  • Genetics

Background:

  • Primary immunodeficiency diseases (PIDs) are a diverse group of genetic disorders affecting the immune system.
  • Over 500 PIDs are known, yet routine immunological assessment after severe infections is not standard practice.
  • Early diagnosis and treatment of PIDs are crucial for preventing severe complications and improving long-term health outcomes.

Purpose of the Study:

  • To assess the feasibility of a PID screening protocol in children admitted to a pediatric intensive care unit (PICU) for severe infections.
  • To determine the prevalence of PIDs in this high-risk pediatric population.
  • To identify common immunological abnormalities associated with severe infections in children.

Main Methods:

  • A retrospective study was conducted on children aged 1 month to 16 years admitted to the Montpellier University Hospital PICU between January 2018 and December 2020.
  • Eligible children underwent follow-up consultations at 3 and 12 months, including PID screening scores, comprehensive immunological, and genetic testing.
  • Data on infection type, pathogens, and immunological findings were collected and analyzed.

Main Results:

  • Out of 1125 children admitted to the PICU, 46 experienced severe infections (bacterial, viral, or fungal).
  • Three children (6.5% prevalence) were diagnosed with PID, including DiGeorge syndrome, Severe Congenital Neutropenia 1, and C5 deficiency.
  • Forty children (87%) showed immunological anomalies, most frequently low NK lymphocytes and abnormal B lymphocyte distribution, with most resolving by 12 months.

Conclusions:

  • A significant prevalence of primary immunodeficiency diseases (PIDs) was observed in children following severe infections, highlighting the need for systematic screening.
  • Immunological anomalies are common post-infection but often transient, emphasizing the importance of comprehensive assessment.
  • Implementing a systematic PID investigation protocol after severe infections, irrespective of the causative pathogen, is recommended for improved early detection and management.

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