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我国原发性免疫缺陷病的诊治现状与发展方向 被引量：4

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摘要 原发性免疫缺陷病（primary immunodeficiency disease，PID）是免疫细胞或其组成成分量或质的变化，导致机体对多种病原体易感性显著增高的疾病，为儿科少见的免疫遗传性疾病。单基因突变导致的免疫学变化和临床表现对研究人类免疫应答规律很有价值，受到国际免疫学界的高度重视。随着我国经济发展，发生于免疫功能正常儿童的各种感染机制和防治手段逐渐明确，
作者 赵晓东 杨锡强
机构地区 重庆医科大学附属儿童医院肾脏免疫科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2008年第11期801-804,共4页 Chinese Journal of Pediatrics
关键词 原发性免疫缺陷病 IMMUNODEFICIENCY 遗传性疾病 免疫学变化 诊治 单基因突变 组成成分 免疫细胞
分类号 R686 [医药卫生—骨科学]
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参考文献21

  • 1Fischer A. Human primary immunodeficiency diseseas. Immunity, 2007, 27:835-845.
  • 2Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies primary immunodeficiency diseases classification committee. J Allergy Clin Immunol, 2007, 120:776-794.
  • 3Hammarstrom P ,Hammarstrom L. Antibody deficiency diseases. Eur J Immunol, 2008,38:327-333.
  • 4Casrouge A, Zhang SY, Eidensehenk C, et al. Herpes simplex virus encephalitis in human UNC-93 B deficiency. Science, 2006, 314:308-312.
  • 5Zhang SY, Jouanguy E, Ugolini S, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science, 2007, 317:1522-1527.
  • 6Carneiro-Sampaio M, Coutinho A. Tolerance and autoimmtmity: lessons at the bedside of primary immunodeficiencies. Adv Immunol,2007,95: 51-82.
  • 7Ulmanen I, Halonen M, Ilmarinen T, et al. Monogenie autoimmune diseases - lessons of self-tolerance. Curr Opin Immunol,2005 ,17 :609-615.
  • 8Puck JM, Sneller MC. ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Semin Immunol, 1997,9:77-84.
  • 9Gambineri E ,Torgerson TR,Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance(IPEX). A syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumal,2003 ,15 :430.
  • 10Ege M, Ma Y, Manfras B, et al. Omenn syndrome due to ARTEMIS mutations. Blood, 2005,105:4179-4186.

二级参考文献18

  • 1[2]Fischer A. Human primary immunodeficiency diseases: a perspective[J]. Nat Immunol,2004,5:23.
  • 2[3]Chapel H,Geha R,Rosen F(for the IUIS PID Classification Committee). Primary immunodeficiency diseases:an update[J]. Clin Exp Immunol,2003,132:9.
  • 3[4]Ochs HD,Smith CIE,Puck JM. Primary immunodeficency diseases[M]. Oxford University Press,New York,Oxford,1999:459.
  • 4[5]Antoine C,Muller S,Cant S,et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies:report of the European experience 1968-99[J]. Lancet,2003,361:553.
  • 5[6]Hacein-Bey-Abina S,Le Deist F,Carlier F,et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy[J]. N Engl J Med,2002,346:1185.
  • 6[7]Hacein-Bey-Abina S,von Kalle C,Schmidt M,et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency[J]. N Eng1 J Med,2003,348:255.
  • 7[8]Applying public health strategies to primary immunodeficiency diseases:a potential approach to genetic disorders. 2004,6.1st available at http://www.cdc.gov/genomics/info/conference/PIsynop.htm
  • 8[9]Valiaho J,Vihinen M. Structure-function effects in primary immunodeficiencies[J]. Scand J Immunol,2000,52:22.
  • 9[10]Gambineri E,Torgerson TR,Ochs HD. Immune dysregulation,polyendocrinopathy,enteropathy,and X-linked inheritance(IPEX). A syndrome of systemic autoimmunity caused by mutations of FOXP3,a critical regulator of T-cell homeostasis[J]. Curr Opin Rheumal,2003,15:430.
  • 10Alain Fischer. Human primary immunodeficiency diseases: a perspective. Nat Immunol, 2004,5:23-30.

共引文献13

同被引文献59

引证文献4

二级引证文献23

中华儿科杂志
2008年 第11期

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