| H00282 | |
| H number | H00282 |
| Name | Cryopyrin associated periodic syndrome |
| Description | Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production of IL-1beta. |
| Category | Immune system disease |
| Network | - |
| Gene | NLRP3 [HSA:114548] [KO:K12800] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Anakinra [DR:D02934] Rilonacept [DR:D06635] Canakinumab [DR:D09315] |
| Comment | - |
| Other DBs | ICD-11: 4A60.1 ICD-10: E85.0 MeSH: D056587 OMIM: 191900 120100 607115 |
| Reference | PMID:14476827 AUTHORS MUCKLE TJ, WELLSM TITLE Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. JOURNAL Q J Med 31:235-48 (1962) PMID:11687797 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 PMID:12483741 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 PMID:14630794 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 PMID:18665151 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 PMID:11590390 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 |