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

doi:10.3389/fimmu.2011.00061

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 journal › Article › peer-review

26 Scopus citations

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 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 language	English
Pages (from-to)	1-8
Number of pages	8
Journal	Frontiers in Immunology
Volume	2
Issue number	NOV
DOIs	https://doi.org/10.3389/fimmu.2011.00061
State	Published - 2011
Externally published	Yes

Keywords

EDA
Ectodermal dysplasia
Immunodeficiency
NEMO

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10.3389/fimmu.2011.00061

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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 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.",

keywords = "EDA, Ectodermal dysplasia, Immunodeficiency, NEMO",

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

year = "2011",

doi = "10.3389/fimmu.2011.00061",

language = "English",

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journal = "Frontiers in Immunology",

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AU - Keller, Michael D.

AU - Petersen, Maureen

AU - Ong, Peck

AU - Church, Joseph

AU - Risma, Kimberly

AU - Burham, Jon

AU - Jain, Ashish

AU - Richard Stiehm, E.

AU - Hanson, Eric P.

AU - Uzel, Gulbu

AU - Deardorff, Matthew A.

AU - Orange, Jordan S.

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - EDA

KW - Ectodermal dysplasia

KW - Immunodeficiency

KW - NEMO

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U2 - 10.3389/fimmu.2011.00061

DO - 10.3389/fimmu.2011.00061

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EP - 8

JO - Frontiers in Immunology

JF - Frontiers in Immunology

IS - NOV

ER -

Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations

Abstract

Keywords

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