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

TITLE=Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations

JOURNAL=Frontiers in Immunology

VOLUME=volume 2 - 2011

YEAR=2011

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2011.00061

DOI=10.3389/fimmu.2011.00061

ISSN=1664-3224

ABSTRACT=Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally-derived structures.  Though many ED-associated genes have been described, the NF-κB Essential Modulator (NEMO encoded by the IKBKG gene) is unique in that mutations also result in severe humoral and cellular immunologic defects. We describe three unrelated kindreds with defects in both EDA and IKBKG resulting from an X-chromosome crossover. This demonstrates 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 IKBKB.