Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit
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...
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Nature Portfolio
2025-07-01
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| Online Access: | https://doi.org/10.1038/s41598-025-02870-7 |
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| author | Anna Deguet Marie-Gabrielle Vigue Claire Lozano Julien Baleine Christophe Milesi Anne Sirvent Laura Kollen Léa Domitien Marjolaine Willems Jean Donadieu Christine Bellané-Chantelot Federica Defendi Carine El Sissy Anne Spraul Jérémie Rosain Capucine Picard Joana Pissarra Caroline Mollevi Fanchon Herman Jacinta Bustamante Eric Jeziorski |
| author_facet | Anna Deguet Marie-Gabrielle Vigue Claire Lozano Julien Baleine Christophe Milesi Anne Sirvent Laura Kollen Léa Domitien Marjolaine Willems Jean Donadieu Christine Bellané-Chantelot Federica Defendi Carine El Sissy Anne Spraul Jérémie Rosain Capucine Picard Joana Pissarra Caroline Mollevi Fanchon Herman Jacinta Bustamante Eric Jeziorski |
| author_sort | Anna Deguet |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-58a07a826d6a49b5a6dedca3143e67c7 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-07-01 |
| publisher | Nature Portfolio |
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| spelling | doaj-art-58a07a826d6a49b5a6dedca3143e67c72025-08-20T04:01:24ZengNature PortfolioScientific Reports2045-23222025-07-0115111110.1038/s41598-025-02870-7Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unitAnna Deguet0Marie-Gabrielle Vigue1Claire Lozano2Julien Baleine3Christophe Milesi4Anne Sirvent5Laura Kollen6Léa Domitien7Marjolaine Willems8Jean Donadieu9Christine Bellané-Chantelot10Federica Defendi11Carine El Sissy12Anne Spraul13Jérémie Rosain14Capucine Picard15Joana Pissarra16Caroline Mollevi17Fanchon Herman18Jacinta Bustamante19Eric Jeziorski20Department of Pediatrics, CHU Montpellier, Hôpital Arnaud de VilleneuveDepartment of Pediatrics, CHU Montpellier, Hôpital Arnaud de VilleneuveDepartment of Immunology, CHU MontpellierPediatric Resuscitation Department, CHU MontpellierPediatric Resuscitation Department, CHU MontpellierPediatric Haematology and Oncology Department, CHU MontpellierPediatric Gastroenterology Department, CHU MontpellierDepartment of Pediatrics, CHU Montpellier, Hôpital Arnaud de VilleneuveMedical Genetics Department, INSERM U1298, Reference Centre AD SOOR, AnDDI-RARE, CHU, University of MontpellierPediatric Hematology and Oncology Department, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP)Medical Genetics Department, Pitié Salpetrière Hospital, APHPDepartment of Immunology, CHU Grenoble-AlpesDepartment of Immunology, Paris University, Hôpital Européen Georges-Pompidou, APHPBiochemistry Department, CHU Bicêtre, APHP, Paris-Saclay UniversityStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris Cité University, Imagine InstituteStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HPClinical Research and Epidemiology Unit, CHU Montpellier, Univ MontpellierInstitute Desbrest of Epidemiology and Public Health, Univ Montpellier, INSERM, CHU MontpellierClinical Research and Epidemiology Unit, CHU Montpellier, Univ MontpellierStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris Cité University, Imagine InstituteDepartment of Pediatrics, CHU Montpellier, Hôpital Arnaud de VilleneuveAbstract 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.https://doi.org/10.1038/s41598-025-02870-7ChildPrimary immunodeficiency diseasesPrognosisInfectionGenetic testingIntensive care units |
| spellingShingle | Anna Deguet Marie-Gabrielle Vigue Claire Lozano Julien Baleine Christophe Milesi Anne Sirvent Laura Kollen Léa Domitien Marjolaine Willems Jean Donadieu Christine Bellané-Chantelot Federica Defendi Carine El Sissy Anne Spraul Jérémie Rosain Capucine Picard Joana Pissarra Caroline Mollevi Fanchon Herman Jacinta Bustamante Eric Jeziorski Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit Scientific Reports Child Primary immunodeficiency diseases Prognosis Infection Genetic testing Intensive care units |
| title | Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| title_full | Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| title_fullStr | Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| title_full_unstemmed | Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| title_short | Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| title_sort | systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit |
| topic | Child Primary immunodeficiency diseases Prognosis Infection Genetic testing Intensive care units |
| url | https://doi.org/10.1038/s41598-025-02870-7 |
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