Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
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.

external link
9.

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

external link
10.

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

external link
11.

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

external link
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.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
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.

external link
31.

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

external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz