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Human In Vitro Suppression as Screening Tool for the Recognition of an Early State of Immune Imbalance
Published on: July 22, 2011
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.
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.
Abstract:
Over 500 primary immunodeficiency diseases (PID) have been described, but immunological assessment after a severe infection is not routine. We aimed to evaluate the feasibility of a PID screening protocol and calculate PID prevalence in children admitted for severe infection in a pediatric intensive care unit (PICU). This monocentric retrospective study evaluated the feasibility of a PID monitoring protocol after severe infection in children aged 1 month to 16 years-old hospitalized in the Montpellier University Hospital from January 2018 to December 2020. Follow-up consultations at 3 and 12 months included the three main PID screening scores, comprehensive immunological and genetic screenings. Among 1125 children admitted to the PICU, 46 had severe infections and caused by bacterial (48%), viral (39%) or fungal (2%) pathogens. Before infection, none had completed any screening score recommended by dedicated societies (Jeffrey Modell Foundation, German Patients' Organization for Primary Immunodeficiencies, French Reference Center for Hereditary Immunodeficiencies). At 3 months, three patients had a PID diagnosis (6.5% prevalence, 95% CI 1.4-17.9). These were associated with a deletion of chromosomal region 22q11.21 (DiGeorge syndrome), ELANE mutation (Elastase deficiency or Severe Congenital Neutropenia 1), and C5 deficiency Forty children (87%) presented immunological anomalies without a formal PID diagnosis. These persisted in only 4/17 children tested at 12 months. The most frequent abnormalities were low NK lymphocytes (41.18%), and abnormal B lymphocyte population distribution (25%). The observed PID prevalence post-severe infection matches previous reports, even with a high rate of viral infections, often overlooked. Systematic PID investigation after severe infection, regardless of the pathogen, should be implemented to improve early detection and treatment.
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