NACHT-, LRR- und PYD-Domain-enthaltendes Protein 12
Das NLRP12-Gen kodiert ein Protein welches mit verschiedenen Regulatorproteinen interagiert. Mutationen führen zu autosomal dominantem familiärem kälteinduziertem autoinflammatorischen Syndrom 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.
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2. |
Shami PJ et al. (2001) Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide.
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3. |
Wang L et al. (2002) PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.
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4. |
Williams KL et al. (2003) Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes.
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5. |
Jru I et. al. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes.
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6. |
Borghini S et. al. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
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7. |
Jru I et. al. (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
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8. |
Vitale A et. al. () Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.
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9. |
Xia X et. al. (2016) Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
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10. |
Shen M et. al. (2017) NLRP12 autoinflammatory disease: a Chinese case series and literature review.
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11. |
Ulland TK et al. (2016) Nlrp12 mutation causes C57BL/6J strain-specific defect in neutrophil recruitment.
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Update: 14. August 2020