Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency

J Clin Immunol. 2023 Aug;43(6):1159-1164. doi: 10.1007/s10875-023-01491-x. Epub 2023 May 16.
No abstract available

Keywords: Common Variable Immunodeficiency (CVID); NFKB2; autoimmunity; hypogammaglobulinaemia; lym1 mice; novel pathogenic gene variants.

Publication types

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

MeSH terms

  • Autoimmunity
  • Common Variable Immunodeficiency* / diagnosis
  • Common Variable Immunodeficiency* / genetics
  • Humans
  • NF-kappa B p52 Subunit* / genetics

Substances

  • NF-kappa B p52 Subunit
  • NFKB2 protein, human