A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

J Clin Immunol. 2016 Aug;36(6):541-3. doi: 10.1007/s10875-016-0309-y. Epub 2016 Jul 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Ectodermal Dysplasia / genetics*
  • Exons / genetics
  • Fatal Outcome
  • Female
  • Frameshift Mutation / genetics
  • Humans
  • I-kappa B Kinase / genetics*
  • Immunologic Deficiency Syndromes / genetics*
  • Infant, Newborn
  • Male
  • Mothers
  • Mutation / genetics*
  • Pedigree

Substances

  • IKBKG protein, human
  • I-kappa B Kinase