Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

NF-kappa-B Inhibitor alpha

Das NFKBIA-Gen kodiert einen NF-kappa-B Inhibitor, der eine wichtige Rolle bei der Signalkaskade von Entzündungsprozessen spielt. Mutationen führen zur autosomal dominanten ektodermalen Dysplasie mit Immundefekt 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Ektodermale Dysplasie mit Immundefekt 2
NFKBIA

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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18.

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

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19.

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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20.

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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21.

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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22.

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

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23.

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

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24.

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

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25.

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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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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Update: 17. Oktober 2019