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Article

A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.

Proceedings of the National Academy of Sciences of the United States of America - 16 Feb 2010

Siggs Owen M, Berger Michael, Krebs Philippe, Arnold Carrie N, Eidenschenk Celine, Huber Christoph, Pirie Elaine, Smart Nora G, Khovananth Kevin, Xia Yu, McInerney Gerald, Karlsson Hedestam Gunilla B, Nemazee David, Beutler Bruce

Abstract excerpt

Null alleles of the gene encoding NEMO (NF-kappaB essential modulator) are lethal in hemizygous mice and men, whereas hypomorphic alleles typically cause a syndrome of immune deficiency and ectodermal dysplasia. Here we describe an allele of Ikbkg in mice that impaired Toll-like receptor signaling, lymph node formation, development of memory and regulatory T cells, and Ig production, but did not cause ectodermal...

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Identifiers

PMID: 20133626
DOI: 10.1073/pnas.0915098107
PMCID: PMC2840324

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Related research

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A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.PMID 20133626Read ↗

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.Semantic proximity Read ↗

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Semantic proximity Read ↗

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.Semantic proximity Read ↗

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.Semantic proximity Read ↗

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.Semantic proximity Read ↗

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Semantic proximity Read ↗

The range of defects associated with nuclear factor kappaB essential modulator.Semantic proximity Read ↗

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.Semantic proximity Read ↗

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).Semantic proximity Read ↗

Clinical Significance of IKBKB Mutations: A Focus on IKBKB-Related Immunodeficiency.Semantic proximity Read ↗

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).Semantic proximity Read ↗

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.Semantic proximity Read ↗

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