Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study

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Published Jan 2, 2025
https://doi.org/10.62438/tunismed.v103i1.5182
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Vol. 103 No. 1 (2025): Tunis Med Jan 2025

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Ouissal Aissaoui
Pediatric Anesthesiology and Intensive Care Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA),Abderrahim Harouchi Mother-child hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.
https://orcid.org/0000-0001-8353-8786
Abderrahmane Moundir
Pediatric Infectious Diseases and Clinical Immunology Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA), Ibn Rochd University hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.
https://orcid.org/0009-0002-6149-4481
Asmaa Drissi Boughanbour
Laboratory of immunology, Laboratory of clinical immunology, inflammation and allergy, Abderrahim Harouchi Mother-child hospital, Casablanca. Faculty of medicine and pharmacy of Casablanca, University Hassan II of Casablanca, Morocco
https://orcid.org/0000-0001-7732-6373
Jalila El Bakkouri
Laboratory of immunology, Laboratory of clinical immunology, inflammation and allergy, Abderrahim Harouchi Mother-child hospital, Casablanca. Faculty of medicine and pharmacy of Casablanca, University Hassan II of Casablanca, Morocco
https://orcid.org/0000-0003-2303-3369
Ibtihal Benhsaien
Pediatric Infectious Diseases and Clinical Immunology Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA), Ibn Rochd University hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.
https://orcid.org/0000-0001-5727-9629
Fatima Ailal
Pediatric Infectious Diseases and Clinical Immunology Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA), Ibn Rochd University hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.
Abdelaziz Chlilek
Pediatric Anesthesiology and Intensive Care Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA),Abderrahim Harouchi Mother-child hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.
Emmanuelle Jouanguy
University of Paris, Imagine Institute, Necker Hospital for Sick Children, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France, St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
Jean Laurent Casanova
University of Paris, Imagine Institute, Necker Hospital for Sick Children, Department of Pediatrics, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France. St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA
Ahmed Aziz Bousfiha
Pediatric Anesthesiology and Intensive Care Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA),Abderrahim Harouchi Mother-child hospital, Casablanca, Faculty of medicine and pharmacy of Casablanca,University Hassan II of Casablanca, Morocco.

Abstract

Introduction: Pediatric sepsis remains a leading cause of morbidity and mortality in Africa. Nearly half of pediatric sepsis deaths occur in previously healthy children. The role of inborn errors of immunity (IEI) in susceptibility to sepsis is yet to be identified and their prevalence amongst previously healthy children admitted to the pediatric intensive care unit (PICU) is unclear. We aimed to assess prevalence of IEI among a cohort of children admitted to the PICU for community acquired sepsis and to describe demographic, microbiological, and genetic features of this cohort.


Methods: We listed a cohort of children admitted to our PICU for sepsis from January 2021 to March 2023. Demographic data was collected, and microbiological tests were performed. Written consent was obtained and whole exome sequencing (WES) was performed after DNA extraction.


Results: Thirty cases were included. Mean age at admission was 46 months (1-180), microorganisms were identified in 20 cases (66%). Bacterial sepsis was identified in 8 cases, viral sepsis in 6 cases and fungal sepsis in 2 cases. Mean pediatric sequential sepsis related organ failure assessment (pSOFA) score at admission was 6,46 (2-18). Mechanical ventilation was necessary in 18 cases. Inotropes were used in 17 cases and renal replacement therapy initiated in 3 cases. Pathogenic variants of IEI were identified in 5 out of 30 cases (17%). These variants were identified in the following genes BACH2, TLR7, TINF2, NFK2B and MAGT1. Overall mortality was 50% and mean intensive care unit (ICU) stay ....(abstract truncated at 250 words)

Keywords:

Sepsis, inborn errors of , whole exome sequencing, pSOFA, children

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