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Article

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.

Journal of clinical immunology - 1 Nov 2017

Frans Glynis, van der Werff Ten Bosch Jutte, Moens Leen, Gijsbers Rik, Changi-Ashtiani Majid, Rokni-Zadeh Hassan, Shahrooei Mohammad, Wuyts Greet, Meyts Isabelle, Bossuyt Xavier

Abstract excerpt

Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. We present a 2-year-old patient with suspected immunodeficiency in which a hemizygous p.Glu57Lys IKBKG variant was identified. At the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28993958
DOI: 10.1007/s10875-017-0448-9

Genes

EDA
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.PMID 28993958Read ↗

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 ↗

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

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 ↗

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

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

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

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.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 ↗

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