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不断认识的自身炎症性疾病 被引量：1

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摘要 自身炎症性疾病（autoinflammatory diseases or disorders,AIDs）是一组固有免疫缺陷导致的以反复发热、急性关节炎和急性期蛋白增加为特征的复发性非侵袭性炎症性疾病.自1999年McDermott等[1]提出后,由于认识不足以及缺乏诊断条件,这类疾病在很大程度上被低估了.随着近年来基因诊断技术的进步以及炎症发生发展机制和信号通路研究的日益进展,近年来对自身炎症性疾病的认识有了长足的进展.
作者 宋红梅
机构地区 中国医学科学院北京协和医学院北京协和医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2014年第12期885-889,共5页 Chinese Journal of Pediatrics
关键词 炎症性疾病 diseases 基因诊断技术 急性期蛋白 急性关节炎 反复发热 免疫缺陷 非侵袭性
分类号 R593 [医药卫生—内科学]
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参考文献36

  • 1McDermott MF,Aksentijevich I,Galon J,et al.Germline mutations in the extracellular domains of the 55 kDa TNF receptor,TNFR1,define a family of dominantly inherited autoinflammatory syndromes[J].Cell,1999,97:133-144.
  • 2Martinon F,Burns K,Tschopp J.The inflammasome:a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta[J].Mol Cell,2002,10:417-426.
  • 3Masters SL,Simon A,Aksentijevich I,et al.Horror autoinflammaticus:the molecular pathophysiology of autoinflammatory disease[J].Annu Rev Immunol,2009,27:621-668.
  • 4Hoffman HM,Mueller JL,Broide DH,et al.Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome[J].Nat Genet,2001,29:301-305.
  • 5Feldmann J,Prieur AM,Quartier P,et al.Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIASI,a gene highly expressed in polymorphonuclear cells and chondrocytes[J].Am J Hum Genet,2002,71:198-203.
  • 6Aksentijevich I,Nowak M,Mallah M,et al.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[J].Arthritis Rheum,2002,46:3340-3348.
  • 7Martinon F,Pétrilli V,Mayor A,et al.out-associated uric acid crystals activate the NALP3 inflammasome[J].Nature,2006,40(7081):237-241.
  • 8Zhou R,Tardivel A,Thorens B,et al.Thioredoxin-interacting protein links oxidative stress to inflammasome activation[J].Nat Immunol,2010,11:136-140.
  • 9Duewell P,Kono H,Rayner KJ,et al.NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals[J].Nature,2010,464(7293):1357-1361.
  • 10Aksentijevich I,Masters SL,Ferguson PJ,et al.An antoinflammatory disease with deficiency of the interleukin-1 receptor antagonist[J].N Engl J Med,2009,360:2426-2437.

二级参考文献122

  • 1沈公印,陈超.家族性地中海热——附2例报道[J].中国罕少疾病杂志,1999,6(4):26-26. 被引量：6
  • 2Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr, 1985, 107(5): 689-693.
  • 3Raphael SA, Blau EB, Zhang WH, et al. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child, 1993, 147(8): 842-848.
  • 4Wang X, Kuivaniemi H, Bonavita G, et al. CARDI5 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum, 2002, 46 (11 ): 3041-3045.
  • 5Pastores GM, Michels VV, Stickler GB, et al. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr, 1990, 117(3): 403-408,
  • 6Alonso D, Elgart GW, Schachner LA. Blau syndrome: a new kindred. J Am Acad Dermatol, 2003, 49(2): 299-302.
  • 7Masel G, Halbert A. Blau syndrome presenting with ichthyosis. Australas J Dermatol, 2005, 46( 1 ): 29-32.
  • 8Hoffmann AL, Milman N, Byg KE. Childhood sarcoidosis in Denmark 1979-1994: incidence, clinical features and laboratory results at presentation in 48 children. Acta Paediatr, 2004, 93 ( 1 ): 30-36.
  • 9McGrath DS, Daniil Z, Foley P, et al. Epidemiology of familial sarcoidosis in the UK. Thorax, 2000, 55(9): 751-754.
  • 10Tromp G, Kuivaniemi H, Raphael S, et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet, 1996,59(5): 1097-1107.

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中华儿科杂志
2014年 第12期

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