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Article

The range of defects associated with nuclear factor kappaB essential modulator.

Current opinion in allergy and clinical immunology - 1 Dec 2005

Uzel Gulbu

Abstract excerpt

PURPOSE OF REVIEW: Impaired ability to signal and activate specific gene transcription through nuclear factor kappaB (NFkappaB) has been directly linked to immunodeficiency. Hypomorphic mutations in the gene encoding NFkappaB essential modulator (NEMO), located on the X chromosome, impair NFkappaB function and lead to ectodermal dysplasia with immunodeficiency (ED-ID) with increased susceptibility to pyogenic...

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Identifiers

PMID: 16264331
DOI: 10.1097/01.all.0000191241.66373.74

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The range of defects associated with nuclear factor kappaB essential modulator.PMID 16264331Read ↗

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

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Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.Semantic proximity Read ↗

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.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 ↗

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.Semantic proximity Read ↗

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read ↗

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

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.Semantic proximity Read ↗

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

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).Semantic proximity Read ↗

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