Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO

J Allergy Clin Immunol. 2016 Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Ectodermal Dysplasia / genetics*
  • Exons / genetics
  • Humans
  • I-kappa B Kinase / genetics*
  • Immunologic Deficiency Syndromes / genetics*
  • Male
  • NF-kappa B / genetics
  • Point Mutation / genetics*

Substances

  • IKBKG protein, human
  • NF-kappa B
  • I-kappa B Kinase