Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.

Frontiers in Immunology
Michael D KellerJordan S Orange

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.

Citations

May 10, 2017·The Journal of Allergy and Clinical Immunology·Glynis FransXavier Bossuyt
Apr 26, 2015·Journal of Dental Research·W Yin, Z Bian
Nov 14, 2018·The Journal of Clinical Investigation·Bertrand BoissonTakahiro Yasumi
Oct 11, 2017·Journal of Clinical Immunology·Glynis FransXavier Bossuyt
Mar 18, 2019·Indian Journal of Pediatrics·Jahnavi AluriManisha R Madkaikar
Feb 10, 2020·Journal of the American Academy of Dermatology·Deeti J PithadiaThomas N Darling
Jun 25, 2021·Frontiers in Immunology·Jiahui ZhangQing Zhou

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Methods Mentioned

BETA
nuclear translocation
X-ray
flow cytometry

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