| H00282 | |
| H番号 | H00282 |
| 名称 | クリオピリン関連周期熱症候群 |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NLRP3 [HSA:114548] [KO:K12800] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | カナキヌマブ [DR:D09315] |
| コメント | - |
| リンク | ICD-11: 4A60.1 ICD-10: E85.0 MeSH: D056587 OMIM: 191900 120100 607115 |
| 文献 | PMID:14476827 著者 MUCKLE TJ, WELLSM タイトル Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. 雑誌 Q J Med 31:235-48 (1962) PMID:11687797 著者 Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD タイトル Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 雑誌 Nat Genet 29:301-5 (2001) DOI:10.1038/ng756 PMID:12483741 著者 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 タイトル 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. 雑誌 Arthritis Rheum 46:3340-8 (2002) DOI:10.1002/art.10688 PMID:14630794 著者 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 タイトル Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 雑誌 Blood 103:2809-15 (2004) DOI:10.1182/blood-2003-07-2531 PMID:18665151 著者 Neven B, Prieur AM, Quartier dit Maire P タイトル Cryopyrinopathies: update on pathogenesis and treatment. 雑誌 Nat Clin Pract Rheumatol 4:481-9 (2008) DOI:10.1038/ncprheum0874 PMID:11590390 著者 Hoffman HM, Wanderer AA, Broide DH タイトル Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. 雑誌 J Allergy Clin Immunol 108:615-20 (2001) DOI:10.1067/mai.2001.118790 |