Anhidrotic ectodermal dysplasia: a new mutation

J Allergy Clin Immunol. 2013 Dec;132(6):1451-3. doi: 10.1016/j.jaci.2013.05.034. Epub 2013 Jul 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • I-kappa B Proteins / genetics
  • I-kappa B Proteins / metabolism*
  • Immunologic Tests / methods
  • Infant
  • Infant, Newborn
  • Infections / diagnosis
  • Infections / etiology
  • Infections / genetics*
  • Lymphocyte Activation / genetics
  • Mutation, Missense / genetics
  • NF-KappaB Inhibitor alpha
  • NF-kappa B / metabolism
  • Organogenesis / genetics
  • Polymorphism, Genetic
  • Signal Transduction / genetics
  • Sweat Glands / embryology
  • Sweat Glands / growth & development
  • Sweat Glands / pathology*
  • T-Lymphocytes / immunology*

Substances

  • I-kappa B Proteins
  • NF-kappa B
  • NFKBIA protein, human
  • NF-KappaB Inhibitor alpha