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

NLR-Familie CARD-Domain-enthaltendes Protein 4

Das NLRC4-Gen spielt eine wichtige Rolle in der angeborenen Infektabwehr gegenüber ein großes Spektrum von Erregern. Mutationen führen zu autosomal dominanten autoinflammatorischen Erkrankungen, so das AIFEC-Syndrom und die Kälte-Urtikaria 4.

Gentests:

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

Verknüpfte Erkrankungen:

Familiäres kälteinduziertes autoinflammatorisches Syndrom 4
NLRC4
Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom
NLRC4

Referenzen:

1.

Poyet JL et al. (2001) Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1.

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2.

Karki R et al. (2018) IRF8 Regulates Transcription of Naips for NLRC4 Inflammasome Activation.

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3.

Erttmann SF et al. (2016) Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity.

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4.

Schieber AM et al. (2015) Disease tolerance mediated by microbiome E. coli involves inflammasome and IGF-1 signaling.

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5.

Hu Z et al. (2015) Structural and biochemical basis for induced self-propagation of NLRC4.

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6.

Zhang L et al. (2015) Cryo-EM structure of the activated NAIP2-NLRC4 inflammasome reveals nucleated polymerization.

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7.

Zhang B et al. (2014) Viral infection. Prevention and cure of rotavirus infection via TLR5/NLRC4-mediated production of IL-22 and IL-18.

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8.

Kitamura A et. al. (2014) An inherited mutation in NLRC4 causes autoinflammation in human and mice.

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9.

Romberg N et al. (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

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10.

Canna SW et al. (2014) An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

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11.

Hu Z et al. (2013) Crystal structure of NLRC4 reveals its autoinhibition mechanism.

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12.

von Moltke J et al. (2012) Rapid induction of inflammatory lipid mediators by the inflammasome in vivo.

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13.

Qu Y et al. (2012) Phosphorylation of NLRC4 is critical for inflammasome activation.

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14.

Zhao Y et al. (2011) The NLRC4 inflammasome receptors for bacterial flagellin and type III secretion apparatus.

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15.

Kofoed EM et al. (2011) Innate immune recognition of bacterial ligands by NAIPs determines inflammasome specificity.

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16.

Miao EA et al. (2010) Caspase-1-induced pyroptosis is an innate immune effector mechanism against intracellular bacteria.

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17.

Franchi L et al. (2006) Cytosolic flagellin requires Ipaf for activation of caspase-1 and interleukin 1beta in salmonella-infected macrophages.

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18.

Mariathasan S et al. (2004) Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf.

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19.

Damiano JS et al. (2001) CLAN, a novel human CED-4-like gene.

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20.

Geddes BJ et al. (2001) Human CARD12 is a novel CED4/Apaf-1 family member that induces apoptosis.

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21.

Mutationsdatenbank

22.

Romberg N et al. (2017) NLRC4 inflammasomopathies.

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Update: 14. August 2020
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