Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

Haematologica. 2016 Oct;101(10):e392-e396. doi: 10.3324/haematol.2016.145136. Epub 2016 Jun 30.
No abstract available

Keywords: Fas; NFKB; antibody deficiency; autoimmune lymphoproliferative syndrome; autoinflammatory disease; immunodeficiency.

Publication types

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

MeSH terms

  • Adult
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Inflammation Mediators / immunology
  • Loss of Function Mutation / genetics*
  • Loss of Function Mutation / immunology
  • NF-kappa B p50 Subunit / genetics*
  • NF-kappa B p50 Subunit / immunology
  • Pedigree
  • Young Adult

Substances

  • Inflammation Mediators
  • NF-kappa B p50 Subunit
  • NFKB1 protein, human