Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations
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...
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2011-11-01
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doaj-33c72a0a04d1410ba51489ffa69b649b2020-11-25T01:00:18ZengFrontiers Media S.A.Frontiers in Immunology1664-32242011-11-01210.3389/fimmu.2011.0006116178Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA MutationsMichael D. Keller0Maureen ePetersen1Peck eOng2Joseph eChurch3Kimberly eRisma4Jon eBurnham5Ashish eJain6E. Richard Stiehm7Eric P. Hanson8Gulbu eUzel9Matthew A. Deardorff10Jordan S. Orange11Children's Hospital of PhiladelphiaWalter Reed National Military Medical CenterChildren’s Hospital of Los AngelesChildren’s Hospital of Los AngelesCincinnati Children’s Hospital Medical CenterChildren's Hospital of PhiladelphiNational Institute of Allergy and Infectious DiseasesDavid Geffen School of Medicine at UCLANational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Allergy and Infectious DiseasesChildren's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaEctodermal 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.http://journal.frontiersin.org/Journal/10.3389/fimmu.2011.00061/fullEctodermal DysplasiaimmunodeficiencyEDANEMO |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Michael D. Keller Maureen ePetersen Peck eOng Joseph eChurch Kimberly eRisma Jon eBurnham Ashish eJain E. Richard Stiehm Eric P. Hanson Gulbu eUzel Matthew A. Deardorff Jordan S. Orange |
spellingShingle |
Michael D. Keller Maureen ePetersen Peck eOng Joseph eChurch Kimberly eRisma Jon eBurnham Ashish eJain E. Richard Stiehm Eric P. Hanson Gulbu eUzel Matthew A. Deardorff Jordan S. Orange Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations Frontiers in Immunology Ectodermal Dysplasia immunodeficiency EDA NEMO |
author_facet |
Michael D. Keller Maureen ePetersen Peck eOng Joseph eChurch Kimberly eRisma Jon eBurnham Ashish eJain E. Richard Stiehm Eric P. Hanson Gulbu eUzel Matthew A. Deardorff Jordan S. Orange |
author_sort |
Michael D. Keller |
title |
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations |
title_short |
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations |
title_full |
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations |
title_fullStr |
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations |
title_full_unstemmed |
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations |
title_sort |
hypohidrotic ectodermal dysplasia and immunodeficiency with coincident nemo and eda mutations |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Immunology |
issn |
1664-3224 |
publishDate |
2011-11-01 |
description |
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. |
topic |
Ectodermal Dysplasia immunodeficiency EDA NEMO |
url |
http://journal.frontiersin.org/Journal/10.3389/fimmu.2011.00061/full |
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