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Article

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

American journal of medical genetics. Part A - 1 Jan 2006

Ørstavik Karen Helene, Kristiansen Marianne, Knudsen Gun Peggy, Storhaug Kari, Vege Ashild, Eiklid Kristin, Abrahamsen Tore G, Smahi Asma, Steen-Johnsen Jon

Abstract excerpt

We report on a family with three stillborn males, three affected males who were small for gestational age and died within 8 months, and one male who died at age 5 years. This boy had cone-shaped teeth and oligoodontia. He had serious bacterial infections and inflammatory bowel disease. Mutations in the NF-kappaB essential modulator (NEMO) gene have recently been shown to be the cause of a group of ectodermal...

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Share to Chromosomes, Human, X
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to I-kappa B Kinase

Share to I-kappa B Proteins

Share to Immunologic Deficiency Syndromes

Share to NF-KappaB Inhibitor alpha

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 16333836
DOI: 10.1002/ajmg.a.31026

Genes

EDA

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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.

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Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.PMID 16333836Read ↗

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

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 ↗

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.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 ↗

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.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 ↗

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 ↗

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

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