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Cryopyrin

Das NLRP3-Gen kodiert ein pyrin-ähnliches Protein, welches in der Regulation von Entzündung, Immunreaktion und Apoptose beteiligt ist. Mutationen sind für autosomal dominante Cryopyrin-assoziiertes periodische Syndrome verantwortlich (Muckle-Wells-Syndrom, Familiäres kälteinduziertes autoinflammatorisches Syndrom 1, CINCA-Syndrom).

Gentests:

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

Verknüpfte Erkrankungen:

Muckle-Wells-Syndrom
NLRP3
Familiäres kälteinduziertes autoinflammatorisches Syndrom 1
NLRP3
CINCA-Syndrom
NLRP3

Referenzen:

1.

Vandanmagsar B et al. (2011) The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance.

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2.

Gross O et al. (2009) Syk kinase signalling couples to the Nlrp3 inflammasome for anti-fungal host defence.

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3.

Allen IC et al. (2009) The NLRP3 inflammasome mediates in vivo innate immunity to influenza A virus through recognition of viral RNA.

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4.

Thomas PG et al. (2009) The intracellular sensor NLRP3 mediates key innate and healing responses to influenza A virus via the regulation of caspase-1.

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5.

Guarda G et al. (2009) T cells dampen innate immune responses through inhibition of NLRP1 and NLRP3 inflammasomes.

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6.

Meng G et al. (2009) A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses.

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7.

Duewell P et al. (2010) NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals.

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8.

McDonald B et al. (2010) Intravascular danger signals guide neutrophils to sites of sterile inflammation.

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9.

Ritter M et al. (2010) Schistosoma mansoni triggers Dectin-2, which activates the Nlrp3 inflammasome and alters adaptive immune responses.

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10.

Zhou R et al. (2011) A role for mitochondria in NLRP3 inflammasome activation.

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11.

Vande Walle L et al. (2014) Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis.

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12.

Shenoy AR et al. (2012) GBP5 promotes NLRP3 inflammasome assembly and immunity in mammals.

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13.

Doyle SL et al. (2012) NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.

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14.

Tarallo V et al. (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88.

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15.

Rathinam VA et al. (2012) TRIF licenses caspase-11-dependent NLRP3 inflammasome activation by gram-negative bacteria.

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16.

Lee GS et al. (2012) The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

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17.

Eklund D et al. (2014) Human gene variants linked to enhanced NLRP3 activity limit intramacrophage growth of Mycobacterium tuberculosis.

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18.

Vlagopoulos T et al. (1975) Familial cold urticaria.

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19.

Mao M et al. (1998) Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.

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20.

Villani AC et al. (2009) Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.

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21.

Heneka MT et al. (2013) NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice.

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22.

Hise AG et al. (2009) An essential role for the NLRP3 inflammasome in host defense against the human fungal pathogen Candida albicans.

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23.

Feldmann J et al. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

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24.

Aksentijevich I et al. (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

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25.

Hoffman HM et al. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

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26.

Dodé C et al. (2002) New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

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27.

Hoffman HM et al. (2003) Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

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28.

Neven B et al. (2004) Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

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29.

Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.

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30.

Kanneganti TD et al. (2006) Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3.

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31.

Martinon F et al. (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome.

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32.

Mariathasan S et al. (2006) Cryopyrin activates the inflammasome in response to toxins and ATP.

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33.

Duncan JA et al. (2007) Cryopyrin/NALP3 binds ATP/dATP, is an ATPase, and requires ATP binding to mediate inflammatory signaling.

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34.

Muruve DA et al. (2008) The inflammasome recognizes cytosolic microbial and host DNA and triggers an innate immune response.

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35.

Dostert C et al. (2008) Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica.

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36.

Eisenbarth SC et al. (2008) Crucial role for the Nalp3 inflammasome in the immunostimulatory properties of aluminium adjuvants.

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37.

Imaeda AB et al. (2009) Acetaminophen-induced hepatotoxicity in mice is dependent on Tlr9 and the Nalp3 inflammasome.

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38.

Orphanet article

Orphanet ID 123821 external link
39.

NCBI article

NCBI 114548 external link
40.

OMIM.ORG article

Omim 606416 external link
Update: 14. August 2020
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