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Article

Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.

Blood - 1 Oct 2006

Temmerman Stephane T, Ma Chi A, Borges Louis, Kubin Marek, Liu Shuying, Derry Jonathan M J, Jain Ashish

Abstract excerpt

Ectodermal dysplasia with immune deficiency (EDI) is caused by alterations in NEMO (nuclear factor [NF]-kappaB essential modulator). Most genetic mutations are located in exon 10 and affect the C-terminal zinc finger domain. However, the biochemical mechanism by which they cause immune dysfunction remains undetermined. In this report, we investigated the effect of a cysteine-to-arginine mutation (C417R) found in...

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Source

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Identifiers

PMID: 16794254
DOI: 10.1182/blood-2006-04-017210
PMCID: PMC1895566

Genes

TLR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.PMID 16794254Read ↗

Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.Semantic proximity Read ↗

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

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

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Semantic proximity Read ↗

The zinc finger domain of IKKγ (NEMO) protein in health and disease.Semantic proximity Read ↗

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

A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.Semantic proximity Read ↗

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.Semantic proximity Read ↗

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