The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

J Clin Immunol. 2020 May;40(4):643-645. doi: 10.1007/s10875-020-00770-1. Epub 2020 Mar 17.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense / genetics*
  • HEK293 Cells
  • Hereditary Autoinflammatory Diseases / genetics*
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / genetics*
  • Mutation / genetics*
  • Peptide Chain Initiation, Translational

Substances

  • Codon, Nonsense
  • IL1RN protein, human
  • Interleukin 1 Receptor Antagonist Protein

Supplementary concepts

  • Deficiency of interleukin-1 receptor antagonist