Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27.
No abstract available

Publication types

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

MeSH terms

  • Codon, Nonsense*
  • Consanguinity
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • I-kappa B Kinase / deficiency
  • I-kappa B Kinase / genetics*
  • I-kappa B Kinase / immunology
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology
  • Infant
  • Mycobacterium Infections / complications
  • Mycobacterium Infections / genetics*
  • Mycobacterium Infections / immunology
  • Mycobacterium Infections / pathology

Substances

  • Codon, Nonsense
  • I-kappa B Kinase
  • IKBKB protein, human