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 was 9,26 (1-60) days.
Conclusion: Prevalence of pathogenic variants of IEI among children admitted to the PICU for sepsis was 17%. Our study findings support systematic screening of IEI amongst critically ill children admitted to the PICU for sepsis in order to increase our comprehension of sepsis phenotypes and improve outcomes in this group of critically ill children.
Keywords: Sepsis; children; inborn errors of; pSOFA; whole exome sequencing.