A Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome.

Daniel D ReiffMingce ZhangEmily A Smitherman Melissa L Mannion Matthew L StollPeter WeiserRandy Q Cron

Published in: Life (Basel, Switzerland) (2022)

These findings add weight to the hypothesis that some severe cases of COVID-19 may be accompanied by sHLH and hyperinflammation, especially in the setting of heterozygous pHLH genetic mutations. This has implications both diagnostically and therapeutically for severe COVID-19.

Keyphrases

coronavirus disease
sars cov
early onset
respiratory syndrome coronavirus
drug induced
gene expression
genome wide
case report
weight gain
dna methylation