Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations

Michael D. Keller, Maureen Petersen, Peck Ong, Joseph Church, Kimberly Risma, Jon Burham, Ashish Jain, E. Richard Stiehm, Eric P. Hanson, Gulbu Uzel, Matthew A. Deardorff, Jordan S. Orange*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally derived structures. Many ED-associated genes have been described, of which ectodysplasin-A (EDA) is one of the more common. The NF-κB essential modulator (NEMO encoded by the IKBKG gene) is unique in that mutations result in severe humoral and cellular immunologic defects in addition to ED. We describe three unrelated kindreds with defects in both EDA and IKBKG resulting from X-chromosome crossover. This demon- strates the importance of thorough immunologic consideration of patients with ED even when an EDA etiology is confirmed, and raises the possibility of a specific phenotype arising from coincident mutations in EDA and IKBKG.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalFrontiers in Immunology
Issue numberNOV
StatePublished - 2011
Externally publishedYes


  • EDA
  • Ectodermal dysplasia
  • Immunodeficiency
  • NEMO


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