Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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

Chronic inflammatory disorders
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial mediterranean fever
Inflammatory bowel disease
Mevalonate kinase-associated inflammatory diseases
Susceptibility to malignant hyperthermia 5
TNF receptor-associated periodic syndrome

References:

1.

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2.

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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3.

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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4.

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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5.

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. (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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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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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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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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31.

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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32.

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

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33.

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

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34.

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

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35.

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36.

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Update: Sept. 26, 2018