ArticleMolecular medicine (Cambridge, Mass.)2022
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Article in Molecular medicine (Cambridge, Mass.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Screening of autoinflammatory genes in patients with SARS-CoV-2-associated MIS-C.Human genomics · 2026Article
- Inflammatory cytokines as biomarkers for disease severity in pediatric viral pneumonia: a systematic review and meta-analysis.Translational pediatrics · 2026Article
- Association of blood group B and of rare variants affecting immune system with multisystem inflammatory syndrome in children in an Italian cohort.Frontiers in immunology · 2026Article
- Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.Journal of medical virology · 2025Article
- Rare genetic variants and severe COVID-19 in previously healthy admixed Latin American adults.Scientific reports · 2025Article
- Review
- Human genetic and immunological determinants of SARS-CoV-2 infection and multisystem inflammatory syndrome in children.Clinical and experimental immunology · 2025Review
- MIS-C pathogenesis: immune dysregulation & viral triggers.Frontiers in immunology · 2025Review
- Unraveling the protective genetic architecture of COVID-19 in the Brazilian Amazon.Scientific reports · 2024Article
- Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.Scientific reports · 2024Article
- Complications of Multisystem Inflammatory Syndrome Associated with SARS-CoV-2 Infection-Many Facets of One Disease-A Literature Review Based on a Case Report.Journal of clinical medicine · 2024Review
- The plasma proteome differentiates the multisystem inflammatory syndrome in children (MIS-C) from children with SARS-CoV-2 negative sepsis.Molecular medicine (Cambridge, Mass.) · 2024Article
- Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.Frontiers in cellular and infection microbiology · 2024Article
- Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children.The Journal of allergy and clinical immunology · 2023Review
- Alterations in immunophenotype and metabolic profile of mononuclear cells during follow up in children with multisystem inflammatory syndrome (MIS-C).Frontiers in immunology · 2023Article
- Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.Frontiers in cellular and infection microbiology · 2023Article
- Multisystem inflammatory syndrome in children characterized by enhanced antigen-specific T-cell expression of cytokines and its reversal following recovery.Frontiers in pediatrics · 2023Article
- Will Omics Biotechnologies Save Us from Future Pandemics? Lessons from COVID-19 for Vaccinomics and Adversomics.Biomedicines · 2022Review
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMultisystem Inflammatory Syndrome in Children (MIS-C) is a life-threatening complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which manifests as a hyper inflammatory process with multiorgan involvement in predominantly healthy children in the weeks following mild or asymptomatic coronavirus disease 2019 (COVID-19). However, host monogenic predisposing factors to MIS-C remain elusive.
methodsHerein, we used whole exome sequencing (WES) on 16 MIS-C Brazilian patients to identify single nucleotide/InDels variants as predisposition factors associated with MIS-C.
resultsWe identified ten very rare variants in eight genes (FREM1, MPO, POLG, C6, C9, ABCA4, ABCC6, and BSCL2) as the most promising candidates to be related to a higher risk of MIS-C development. These variants may propitiate a less effective immune response to infection or trigger the inflammatory response or yet a delayed hyperimmune response to SARS-CoV-2. Protein-Protein Interactions (PPIs) among the products of the mutated genes revealed an integrated network, enriched for immune and inflammatory response mechanisms with some of the direct partners representing gene products previously associated with MIS-C and Kawasaki disease (KD). In addition, the PPIs direct partners are also enriched for COVID-19-related gene sets. HLA alleles prediction from WES data allowed the identification of at least one risk allele in 100% of the MIS-C patients.
conclusionsThis study is the first to explore host MIS-C-associated variants in a Latin American admixed population. Besides expanding the spectrum of MIS-C-associated variants, our findings highlight the relevance of using WES for characterising the genetic interindividual variability associated with COVID-19 complications and ratify the presence of overlapping/convergent mechanisms among MIS-C, KD and COVID-19, crucial for future therapeutic management.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.