title: Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
abstract: 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 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 IKBKG.
authors.affiliation: Division of Immunology, Children's Hospital of Philadelphia Philadelphia, PA, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Keller
authors.forename: Maureen
authors.initials: M
authors.lastname: Petersen
authors.forename: Peck
authors.initials: P
authors.lastname: Ong
authors.forename: Joseph
authors.initials: J
authors.lastname: Church
authors.forename: Kimberly
authors.initials: K
authors.lastname: Risma
authors.forename: Jon
authors.initials: J
authors.lastname: Burham
authors.forename: Ashish
authors.initials: A
authors.lastname: Jain
authors.forename: E Richard
authors.initials: ER
authors.lastname: Stiehm
authors.forename: Eric P
authors.initials: EP
authors.lastname: Hanson
authors.forename: Gulbu
authors.initials: G
authors.lastname: Uzel
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange