A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
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Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6.
Nat Commun. 2019.
PMID: 31636267
Free PMC article.