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:
Related Diseases:
References:
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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