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Article

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.

Archives of disease in childhood - 1 Apr 2003

Carrol E D, Gennery A R, Flood T J, Spickett G P, Abinun M

Abstract excerpt

Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12651765
DOI: 10.1136/adc.88.4.340
PMCID: PMC1719512

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.PMID 12651765Read ↗

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 ↗

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Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with ImmunodeficiencySemantic proximity Read ↗

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

X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.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 ↗

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

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