Top

Published in:

01-08-2016 | Letter to Editor

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

Authors: Alicia M. Johnston, Julie Niemela, Sergio D. Rosenzweig, Ari J. Fried, Ottavia Maria Delmonte, Thomas A. Fleisher, Hyesun Kuehn

Published in: Journal of Clinical Immunology | Issue 6/2016

Excerpt

To the Editor: …

Available only for authorised users

Smahi A et al. Genomic rearrangement in NEMO impairs NF-kappa B activation and is a cause of incontinentia pigmenti. Nature. 2000;405(6785):466–72.CrossRefPubMed

Doffinger R et al. X-Linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling. Nat Genet. 2001;27:277–85.CrossRefPubMed

Hanson E et al. Hypomorphic nuclear factor-kB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169–77.CrossRefPubMedPubMedCentral

Zonana J et al. A Novel X-Linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67:1555–62.CrossRefPubMedPubMedCentral

Cortouis G et al. A hypermorphic IkBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency. J Clin Invest. 2003;112:1108–15.CrossRef

Pannicke et al. Deficiency of innate and acquired immunity caused by an IKBKB Mutation. N Engl J Med. 2013;369:2504–14.CrossRefPubMed

Orange J et al. Human nuclear factor kB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol. 2004;114:650–6.CrossRefPubMed

Title: A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)
Authors: Alicia M. Johnston
Julie Niemela
Sergio D. Rosenzweig
Ari J. Fried
Ottavia Maria Delmonte
Thomas A. Fleisher
Hyesun Kuehn
Publication date: 01-08-2016
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 6/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-016-0309-y

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

Excerpt

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 6/2016

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients

Expanded CD4+ Effector/Memory T Cell Subset in APECED Produces Predominantly Interferon Gamma

Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation

Efficacy, Safety, and Pharmacokinetics of a New 10 % Liquid Intravenous Immunoglobulin Containing High Titer Neutralizing Antibody to RSV and Other Respiratory Viruses in Subjects with Primary Immunodeficiency Disease

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis

Flebogamma® 5 % DIF Intravenous Immunoglobulin for Replacement Therapy in Children with Primary Immunodeficiency Diseases

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page