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). Abot 30% of diseases are caused by somatic mutations.
Genetests:
Related Diseases:
References:
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Zhou R et al. (2011) A role for mitochondria in NLRP3 inflammasome activation.
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Villani AC et al. (2009) Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
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Gross O et al. (2009) Syk kinase signalling couples to the Nlrp3 inflammasome for anti-fungal host defence.
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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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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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Guarda G et al. (2009) T cells dampen innate immune responses through inhibition of NLRP1 and NLRP3 inflammasomes.
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Meng G et al. (2009) A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses.
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Duewell P et al. (2010) NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals.
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McDonald B et al. (2010) Intravascular danger signals guide neutrophils to sites of sterile inflammation.
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Ritter M et al. (2010) Schistosoma mansoni triggers Dectin-2, which activates the Nlrp3 inflammasome and alters adaptive immune responses.
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Vande Walle L et al. (2014) Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis.
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Vandanmagsar B et al. (2011) The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance.
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Shenoy AR et al. (2012) GBP5 promotes NLRP3 inflammasome assembly and immunity in mammals.
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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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Rathinam VA et al. (2012) TRIF licenses caspase-11-dependent NLRP3 inflammasome activation by gram-negative bacteria.
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Lee GS et al. (2012) The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.
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Eklund D et al. (2014) Human gene variants linked to enhanced NLRP3 activity limit intramacrophage growth of Mycobacterium tuberculosis.
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Vlagopoulos T et al. (1975) Familial cold urticaria.
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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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Dostert C et al. (2008) Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica.
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Heneka MT et al. (2013) NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice.
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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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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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Imaeda AB et al. (2009) Acetaminophen-induced hepatotoxicity in mice is dependent on Tlr9 and the Nalp3 inflammasome.
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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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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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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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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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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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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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Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.
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Kanneganti TD et al. (2006) Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3.
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Martinon F et al. (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome.
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Mariathasan S et al. (2006) Cryopyrin activates the inflammasome in response to toxins and ATP.
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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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Muruve DA et al. (2008) The inflammasome recognizes cytosolic microbial and host DNA and triggers an innate immune response.
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Eisenbarth SC et al. (2008) Crucial role for the Nalp3 inflammasome in the immunostimulatory properties of aluminium adjuvants.
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Orphanet article
Orphanet ID 123821
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NCBI article
NCBI 114548
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OMIM.ORG article
Omim 606416
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Wikipedia article
Wikipedia EN (NALP3)
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Update: Aug. 14, 2020