Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

NF-kappa-B inhibitor alpha

The NFKBIA gene encodes an NF-kappa-B inhibitor which plays an important role in signal transduction during infections. Mutations cause autosomal dominant ectodermal dysplasia and immunodeficiency 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Ectodermal dysplasia and immunodeficiency 2
NFKBIA

References:

1.

Ducut Sigala JL et al. (2004) Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit.

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2.

Moriya K et al. (2018) IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

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3.

Boisson B et al. (2017) Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

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4.

Staples E et al. (2017) Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

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5.

Lee AJ et al. (2016) Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

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6.

Mooster JL et al. (2015) Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.

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7.

Giancane G et al. (2013) Anhidrotic ectodermal dysplasia: a new mutation.

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8.

Yoshioka T et al. (2013) Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

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9.

Schimke LF et al. (2013) A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

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10.

Ali S et al. (2013) Functional genetic variation in NFKBIA and susceptibility to childhood asthma, bronchiolitis, and bronchopulmonary dysplasia.

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11.

Bredel M et al. (2011) NFKBIA deletion in glioblastomas.

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12.

Lopez-Granados E et al. (2008) A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.

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13.

Carbia-Nagashima A et al. (2007) RSUME, a small RWD-containing protein, enhances SUMO conjugation and stabilizes HIF-1alpha during hypoxia.

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14.

McDonald DR et al. (2007) Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

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15.

Cai D et al. (2004) IKKbeta/NF-kappaB activation causes severe muscle wasting in mice.

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16.

Janssen R et al. (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

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17.

Neish AS et al. (2000) Prokaryotic regulation of epithelial responses by inhibition of IkappaB-alpha ubiquitination.

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18.

Courtois G et al. (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

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19.

Hoffmann A et al. (2002) The IkappaB-NF-kappaB signaling module: temporal control and selective gene activation.

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20.

Ting AY et al. (2002) Signal transduction. Decoding NF-kappaB signaling.

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21.

Rupec RA et al. (1999) Structural analysis, expression, and chromosomal localization of the mouse ikba gene.

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22.

Huxford T et al. (1998) The crystal structure of the IkappaBalpha/NF-kappaB complex reveals mechanisms of NF-kappaB inactivation.

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23.

Jacobs MD et al. (1998) Structure of an IkappaBalpha/NF-kappaB complex.

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24.

None (1998) IkappaB-NF-kappaB structures: at the interface of inflammation control.

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25.

Ito CY et al. (1995) Structure and evolution of the human IKBA gene.

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26.

Jung M et al. (1995) Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I kappa B-alpha.

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27.

Auphan N et al. (1995) Immunosuppression by glucocorticoids: inhibition of NF-kappa B activity through induction of I kappa B synthesis.

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28.

Scheinman RI et al. (1995) Role of transcriptional activation of I kappa B alpha in mediation of immunosuppression by glucocorticoids.

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29.

Haskill S et al. (1991) Characterization of an immediate-early gene induced in adherent monocytes that encodes I kappa B-like activity.

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30.

Le Beau MM et al. (1992) Chromosomal localization of the genes encoding the p50/p105 subunits of NF-kappa B (NFKB2) and the I kappa B/MAD-3 (NFKBI) inhibitor of NF-kappa B to 4q24 and 14q13, respectively.

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31.

Dajee M et al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.

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Update: Aug. 14, 2020
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