ArticleJournal of clinical immunology2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Article in Journal of clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review.The Journal of infectious diseases · 2026Pooled it
- Aberrant STAT signaling and T cell dysregulation define a targetable pediatric sepsis endotype.The Journal of clinical investigation · 2026Article
- Deleterious variants in LTBP4 are associated with severe pediatric sepsis.Pediatric research · 2026Article
- Mortality rate and predictors of mortality of pediatric sepsis and septic shock in a Moroccan tertiary care center.Frontiers in pediatrics · 2026Article
- International survey on immunological diagnostics in children with sepsis.Intensive care medicine. Paediatric and neonatal · 2026Article
- Application of New Pediatric Sepsis Definition to a Multicenter Observational Cohort of Previously Enrolled Severe Sepsis Patients Defined by SIRS Plus Organ Dysfunction.Journal of intensive care medicine · 2025Observational
- Genomic sequencing: the case for equity of care in the era of personalized medicine.Pediatric research · 2025Review
- Application of whole-exome sequencing to predict inborn errors of immunity in pediatric severe infections and sepsis.Clinical and experimental immunology · 2025Observational
- 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.La Tunisie medicale · 2025Article
- Risk factors for mortality and development of a predictive model in pediatric sepsis.Frontiers in pediatrics · 2025Article
- Article
- Autoinflammatory Contributors to Cytokine Storm.Advances in experimental medicine and biology · 2024Review
- Hyperferritinemic sepsis, macrophage activation syndrome, and mortality in a pediatric research network: a causal inference analysis.Critical care (London, England) · 2023Article
- Article
- The yin and the yang of early classical pathway complement disorders.Clinical and experimental immunology · 2022Review
- MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.Frontiers in immunology · 2022Article
- Are inborn errors of immunity being investigated in the pediatric intensive care unit?Jornal de pediatriaArticle
- Strength of Omics in Uncovering Sepsis Mechanisms-A Perspective.Current health sciences journalReview
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26 authors at 13 institutions in 1 country.
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Abstract
purposeOur understanding of inborn errors of immunity is increasing; however, their contribution to pediatric sepsis is unknown.
methodsWe used whole-exome sequencing (WES) to characterize variants in genes related to monogenic immunologic disorders in 330 children admitted to intensive care for severe sepsis. We defined candidate variants as rare variants classified as pathogenic or potentially pathogenic in QIAGEN's Human Gene Mutation Database or novel null variants in a disease-consistent inheritance pattern. We investigated variant correlation with infection and inflammatory phenotype.
resultsMore than one in two children overall and three of four African American children had immunodeficiency-associated variants. Children with variants had increased odds of isolating a blood or urinary pathogen (blood: OR 2.82, 95% CI: 1.12-7.10, p = 0.023, urine: OR: 8.23, 95% CI: 1.06-64.11, p = 0.016) and demonstrating increased inflammation with hyperferritinemia (ferritin [Formula: see text] ng/mL, OR: 2.16, 95% CI: 1.28-3.66, p = 0.004), lymphopenia (lymphocyte count < 1000/µL, OR: 1.66, 95% CI: 1.06 - 2.60, p = 0.027), thrombocytopenia (platelet count < 150,000/µL, OR: 1.76, 95% CI: 1.12-2.76, p = 0.013), and CRP greater than 10 mg/dl (OR: 1.71, 95% CI: 1.10-2.68, p = 0.017). They also had increased odds of requiring extracorporeal membrane oxygenation (ECMO, OR: 4.19, 95% CI: 1.21-14.5, p = 0.019).
conclusionHerein, we describe the genetic findings in this severe pediatric sepsis cohort and their microbiologic and immunologic significance, providing evidence for the phenotypic effect of these variants and rationale for screening children with life-threatening infections for potential inborn errors of immunity.
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