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Cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndrome is a goup of allelic disorders caused by mutations of Cryopyrin (NLRP3 gene) with overlapping clinical features. They have in common periodic inflammation accompanied by fever and renal amyloidosis. About 30% of diseases are caused by somatic mutations.

Classification

The group of cryopyrin-associated periodic syndrome consists of three different phenotypes:

  1. Familial cold autoinflammatory syndrome 1 is the mildest form that merely shows episodes of skin rash.
  2. Muckle-Wells syndrome includes the development of late onset sensoneural hearing loss and amyloidosis.
  3. CINCA syndrome is characterized by early-onset neurological symptoms.

Management

Treatment with interleukin-1 antagonists not only results in prompt clinical improvement but also prevention of amyloidosis.

Systematic

Systemic autoinflammatory disease
ADA2 deficiency
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Mevalonate kinase-associated inflammatory diseases
NOD2-associated disease
Pyrin-associated autoinflammatory disease

References:

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

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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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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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30.

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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31.

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

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32.

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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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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36.

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

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37.

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

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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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Orphanet article

Orphanet ID 208650 external link
40.

Wikipedia article

Wikipedia EN (Cryopyrin-associated_periodic_syndrome) external link
Update: Aug. 14, 2020
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