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Article

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

Human mutation - 1 May 2008

Fusco Francesca, Pescatore Alessandra, Bal Elodie, Ghoul Aida, Paciolla Mariateresa, Lioi Maria Brigida, D'Urso Michele, Rabia Smail Hadj, Bodemer Christine, Bonnefont Jean Paul, Munnich Arnold, Miano Maria Giuseppina, Smahi Asma, Ursini Matilde Valeria

Abstract excerpt

Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. The IKBKG gene, located in the Xq28 chromosomal region, encodes for the regulatory...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18350553
DOI: 10.1002/humu.20739

Genes

EDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.PMID 18350553Read ↗

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 ↗

An atypical case of incontinentia pigmenti with a hypomorphic variant.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 ↗

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

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.Semantic proximity Read ↗

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.Semantic proximity Read ↗

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.Semantic proximity Read ↗

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).Semantic proximity Read ↗

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

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

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Semantic proximity Read ↗

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