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Erschienen in: Journal of Clinical Immunology 6/2016

02.07.2016 | Letter to Editor

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

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2016

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Literatur
1.
Zurück zum Zitat 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 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
2.
Zurück zum Zitat 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 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
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Zurück zum Zitat 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 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
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Zurück zum Zitat 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 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
5.
Zurück zum Zitat 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 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
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Zurück zum Zitat Pannicke et al. Deficiency of innate and acquired immunity caused by an IKBKB Mutation. N Engl J Med. 2013;369:2504–14.CrossRefPubMed Pannicke et al. Deficiency of innate and acquired immunity caused by an IKBKB Mutation. N Engl J Med. 2013;369:2504–14.CrossRefPubMed
7.
Zurück zum Zitat 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 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
Metadaten
Titel
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)
verfasst von
Alicia M. Johnston
Julie Niemela
Sergio D. Rosenzweig
Ari J. Fried
Ottavia Maria Delmonte
Thomas A. Fleisher
Hyesun Kuehn
Publikationsdatum
02.07.2016
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 6/2016
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0309-y

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