ArticleHuman mutation2008
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 96 citations in OpenAlex.
- Article
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.Journal of translational autoimmunity · 2025Review
- Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.BMC oral health · 2024Article
- Review
- NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.Journal of autoimmunity · 2023Article
- Interstitial Lung Disease in Immunocompromised Children.Diagnostics (Basel, Switzerland) · 2022Article
- Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.Rheumatology (Oxford, England) · 2022Article
- Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.International journal of molecular sciences · 2022Article
- A heterozygous N-terminal truncation mutation ofGenes & diseases · 2022Article
- NF-κB-Dependent and -Independent (Moonlighting) IκBα Functions in Differentiation and Cancer.Biomedicines · 2021Review
- Review
- Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.The Journal of clinical investigation · 2020Article
- Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.Signal transduction and targeted therapy · 2020Review
- Reduced IκB-α Protein Levels in Peripheral Blood Cells of Patients with Multiple Sclerosis-A Possible Cause of Constitutive NF-κB Activation.Journal of clinical medicine · 2020Article
- SRSF7 maintains its homeostasis through the expression of Split-ORFs and nuclear body assembly.Nature structural & molecular biology · 2020Article
- Article
- Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India.PLoS neglected tropical diseases · 2019Article
- Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.Clinical immunology (Orlando, Fla.) · 2019Article
- Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.The Journal of allergy and clinical immunology · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Alterations in nuclear factor kappa B (NF-kappaB) essential modulator (NEMO; HUGO-approved symbol IKBKG) underlie most cases of ectodermal dysplasia with immune deficiency (EDI), a human disorder characterized by anhidrosis with diminished immunity. EDI has also been associated with a single heterozygous mutation at position Ser32 of the NF-kappaB inhibitor IkappaBalpha, one of two phosphorylation sites that are essential for targeting IkappaBalpha for proteasomal degradation and hence for activation of NF-kappaB. We report a novel heterozygous nonsense mutation in the IKBA (HUGO-approved symbol, NFKBIA) gene of a 1-year-old male child with EDI that introduces a premature termination codon at position Glu14. An in-frame methionine downstream of the nonsense mutation allows for reinitiation of translation. The resulting N-terminally truncated protein lacks both serine phosphorylation sites and inhibits NF-kappaB signaling by functioning as a dominant negative on NF-kappaB activity in lymphocytes and monocytes. These findings support the scanning model for translation initiation in eukaryotes and confirm the critical role of the NF-kappaB in the human immune response.
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Registered trials
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