Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
COVID-19
Pyrin
cytokine storm
genetic markers
hyperinflammatory immune response
primary immunodeficiency
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
16 Sep 2023
16 Sep 2023
Historique:
received:
21
07
2023
revised:
31
08
2023
accepted:
05
09
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
The hyperinflammatory response caused by SARS-CoV-2 infection contributes to its severity, and many critically ill patients show features of cytokine storm (CS) syndrome. We investigated, by next-generation sequencing, 24 causative genes of primary immunodeficiencies whose defect predisposes to CS. We studied two cohorts with extreme phenotypes of SARS-CoV-2 infection: critical/severe hyperinflammatory patients (H-P) and asymptomatic patients (AM-risk-P) with a high risk (older age) to severe COVID-19. To explore inborn errors of the immunity, we investigated the presence of pathogenic or rare variants, and to identify COVID-19 severity-associated markers, we compared the allele frequencies of common genetic polymorphisms between our two cohorts. We found: 1 H-P carries the likely pathogenic variant c.887-2 A>C in the
Identifiants
pubmed: 37760989
pii: biomedicines11092548
doi: 10.3390/biomedicines11092548
pmc: PMC10525993
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Health Research Institute of the Balearic Islands (IdISBa)
ID : COVID-19/35
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