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Cryopyrin

The NLRP3 gene encodes a pyrin-like protein which plays a role in regulation of inflammation, immune response, and apoptosis. Mutations cause autosomal dominant Cryopyrin-associated periodic syndromes (Muckle-Wells syndrome, Familial cold autoinflammatory syndrome 1, CINCA syndrome).

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Muckle-Wells syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
CINCA syndrome
NLRP3

References:

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
41.

Wikipedia article

Wikipedia EN (NALP3) external link
Update: Aug. 14, 2020
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