NF-kappa-B essential modulator
The IKBKG gene encodes a modulator of the NF-kappa-B function. Mutations cause X-linked recessive or dominant ectodermal anomalies and immunodeficiency.
Genetests:
Related Diseases:
References:
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Ku CL et al. (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
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Kovalenko A et al. (2003) The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.
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3. |
Nishikomori R et al. (2004) X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
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4. |
Fusco F et al. (2004) Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
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5. |
Orange JS et al. (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
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6. |
Niehues T et al. (2004) Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
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7. |
Jain A et al. (2004) Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.
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8. |
Martinez-Pomar N et al. (2005) A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
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9. |
Ørstavik KH et al. (2006) Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
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10. |
Vinolo E et al. (2006) A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.
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11. |
Wu ZH et al. (2006) Molecular linkage between the kinase ATM and NF-kappaB signaling in response to genotoxic stimuli.
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Puel A et al. (2006) The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
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13. |
Filipe-Santos O et al. (2006) X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
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14. |
Brummelkamp TR et al. (2003) Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB.
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15. |
Nenci A et al. (2007) Epithelial NEMO links innate immunity to chronic intestinal inflammation.
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16. |
Singh A et al. (2009) Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.
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17. |
Siggs OM et al. (2010) A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.
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18. |
Takada H et al. (2010) NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients.
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19. |
Gautheron J et al. (2010) Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
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20. |
Gerlach B et al. (2011) Linear ubiquitination prevents inflammation and regulates immune signalling.
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21. |
Tokunaga F et al. (2011) SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex.
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22. |
Ikeda F et al. (2011) SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis.
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Chiu JC et al. (2011) NEMO/NLK phosphorylates PERIOD to initiate a time-delay phosphorylation circuit that sets circadian clock speed.
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Fusco F et al. (2012) Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
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Boisson B et al. (2019) Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
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May MJ et al. (2000) Selective inhibition of NF-kappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex.
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27. |
de Jesus AA et al. (2020) Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
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28. |
Lie SO et al. (1978) Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome.
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29. |
Roberts JL et al. (1998) Incontinentia pigmenti in a newborn male infant with DNA confirmation.
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30. |
Yamaoka S et al. (1998) Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation.
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31. |
Rothwarf DM et al. (1998) IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex.
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32. |
Li Y et al. (1999) Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis.
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33. |
Jin DY et al. () Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28.
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34. |
Li Q et al. (1999) Severe liver degeneration in mice lacking the IkappaB kinase 2 gene.
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35. |
Rudolph D et al. (2000) Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice.
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36. |
Smahi A et al. (2000) Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
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37. |
Makris C et al. (2000) Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti.
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38. |
Schmidt-Supprian M et al. (2000) NEMO/IKK gamma-deficient mice model incontinentia pigmenti.
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39. |
Matsuzawa A et al. (2008) Essential cytoplasmic translocation of a cytokine receptor-assembled signaling complex.
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40. |
Zonana J et al. (2000) A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
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41. |
Aradhya S et al. (2001) Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
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42. |
Jain A et al. (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
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43. |
Döffinger R et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
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44. |
Kosaki K et al. (2001) Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
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45. |
Aradhya S et al. (2001) A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
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46. |
Kenwrick S et al. (2001) Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
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47. |
Aradhya S et al. (2001) Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.
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48. |
Orange JS et al. (2002) Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
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49. |
None (2002) Pushing the limits of the scanning mechanism for initiation of translation.
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50. |
Bardaro T et al. (2003) Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.
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Update: Aug. 14, 2020