ArticleJournal of the Pediatric Infectious Diseases Society2023
Diagnosis of Multisystem Inflammatory Syndrome in Children by a Whole-Blood Transcriptional Signature.
Article in Journal of the Pediatric Infectious Diseases Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Translational opportunities in aptamer and nanobody lateral flow assays within the WHO REASSURED framework.Sensors & diagnostics · 2026Review
- Predicting trajectories of illness using RNA velocity of whole blood.Nature communications · 2026Observational
- Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration.Nucleic acids research · 2026Article
- Early-life rotavirus infection susceptibility and later gastrointestinal cancer protection: Reverse antagonistic pleiotropy and potential vaccine benefits.Current research in microbial sciences · 2026Article
- Cytokine and Whole-Genome Sequence Analysis in Korean Patients With Multisystem Inflammatory Syndrome in Children.Journal of Korean medical science · 2025Article
- Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall.International journal of molecular sciences · 2025Article
- A 5-transcript signature for discriminating viral and bacterial etiology in pediatric pneumonia.iScience · 2025Article
- An Update on Multi-System Inflammatory Syndrome in Children.Current rheumatology reports · 2025Review
- Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).The Journal of experimental medicine · 2024Article
- Shared neutrophil and T cell dysfunction is accompanied by a distinct interferon signature during severe febrile illnesses in children.Nature communications · 2024Article
- Plasma cell-free RNA signatures of inflammatory syndromes in children.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Proteomic profiling reveals diagnostic signatures and pathogenic insights in multisystem inflammatory syndrome in children.Communications biology · 2024Article
Corrections and comments
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Authors and funding
52 authors at 20 institutions in 13 countries.
Funding
Abstract
backgroundTo identify a diagnostic blood transcriptomic signature that distinguishes multisystem inflammatory syndrome in children (MIS-C) from Kawasaki disease (KD), bacterial infections, and viral infections.
methodsChildren presenting with MIS-C to participating hospitals in the United Kingdom and the European Union between April 2020 and April 2021 were prospectively recruited. Whole-blood RNA Sequencing was performed, contrasting the transcriptomes of children with MIS-C (n = 38) to those from children with KD (n = 136), definite bacterial (DB; n = 188) and viral infections (DV; n = 138). Genes significantly differentially expressed (SDE) between MIS-C and comparator groups were identified. Feature selection was used to identify genes that optimally distinguish MIS-C from other diseases, which were subsequently translated into RT-qPCR assays and evaluated in an independent validation set comprising MIS-C (n = 37), KD (n = 19), DB (n = 56), DV (n = 43), and COVID-19 (n = 39).
resultsIn the discovery set, 5696 genes were SDE between MIS-C and combined comparator disease groups. Five genes were identified as potential MIS-C diagnostic biomarkers (HSPBAP1, VPS37C, TGFB1, MX2, and TRBV11-2), achieving an AUC of 96.8% (95% CI: 94.6%-98.9%) in the discovery set, and were translated into RT-qPCR assays. The RT-qPCR 5-gene signature achieved an AUC of 93.2% (95% CI: 88.3%-97.7%) in the independent validation set when distinguishing MIS-C from KD, DB, and DV.
conclusionsMIS-C can be distinguished from KD, DB, and DV groups using a 5-gene blood RNA expression signature. The small number of genes in the signature and good performance in both discovery and validation sets should enable the development of a diagnostic test for MIS-C.
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