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Article

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

Journal of clinical immunology - 1 Aug 2016

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27368913
DOI: 10.1007/s10875-016-0309-y
PMCID: PMC5007618

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).PMID 27368913Read ↗

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 ↗

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

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

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

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Semantic proximity Read ↗

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

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with ImmunodeficiencySemantic 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 ↗

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

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

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.Semantic proximity Read ↗

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

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