A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy

J Allergy Clin Immunol Pract. 2024 Oct;12(10):2873-2876.e1. doi: 10.1016/j.jaip.2024.06.024. Epub 2024 Jun 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Common Variable Immunodeficiency* / diagnosis
  • Common Variable Immunodeficiency* / drug therapy
  • Common Variable Immunodeficiency* / genetics
  • Female
  • Humans
  • Inflammation / genetics
  • Interleukin-1 / genetics
  • Male
  • Mutation*
  • NF-kappa B p50 Subunit* / genetics
  • Postoperative Complications / genetics
  • RNA Splice Sites / genetics

Substances

  • NF-kappa B p50 Subunit
  • NFKB1 protein, human
  • RNA Splice Sites
  • Interleukin-1