KEGG   DISEASE: Cryopyrin associated periodic syndrome
Entry
H00282                      Disease                                

Name
Cryopyrin associated periodic syndrome
  Subgroup
Muckle-Wells syndrome (MWS)
Familial cold autoinflammatory syndrome (FCAS) [DS:H02159]
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome
Description
Cryopyrin associated periodic syndrome (CAPS) all arise from a missense mutation in the CIAS1 gene that encodes NALP3. These are autosomal dominant inherited disease characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NALP3 inflammasome, resulting in aberrantly high production of IL-1beta.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00282  Cryopyrin associated periodic syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H00282  Cryopyrin associated periodic syndrome
Related
pathway
hsa04621  NOD-like receptor signaling pathway
hsa04625  C-type lectin receptor signaling pathway
Gene
NALP3 [HSA:114548] [KO:K12800]
Env factor
Exposure to cold (FCAS)
Drug
Anakinra [DR:D02934]
Rilonacept [DR:D06635]
Canakinumab [DR:D09315]
Other DBs
ICD-11: 4A60.1
ICD-10: E85.0
MeSH: D056587
OMIM: 191900 120100 607115
Reference
  Authors
MUCKLE TJ, WELLSM
  Title
Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.
  Journal
Q J Med 31:235-48 (1962)
Reference
  Authors
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD
  Title
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
  Journal
Nat Genet 29:301-5 (2001)
DOI:10.1038/ng756
Reference
PMID:14872505 (drug)
  Authors
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF
  Title
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.
  Journal
Arthritis Rheum 50:607-12 (2004)
DOI:10.1002/art.20033
Reference
  Authors
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R
  Title
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.
  Journal
Arthritis Rheum 46:3340-8 (2002)
DOI:10.1002/art.10688
Reference
  Authors
Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G
  Title
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
  Journal
Blood 103:2809-15 (2004)
DOI:10.1182/blood-2003-07-2531
Reference
  Authors
Neven B, Prieur AM, Quartier dit Maire P
  Title
Cryopyrinopathies: update on pathogenesis and treatment.
  Journal
Nat Clin Pract Rheumatol 4:481-9 (2008)
DOI:10.1038/ncprheum0874
Reference
  Authors
Hoffman HM, Wanderer AA, Broide DH
  Title
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
  Journal
J Allergy Clin Immunol 108:615-20 (2001)
DOI:10.1067/mai.2001.118790
Reference
PMID:25438464 (drug)
  Authors
Giat E, Lidar M
  Title
Cryopyrin-associated periodic syndrome.
  Journal
Isr Med Assoc J 16:659-61 (2014)
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