期刊文献+

关注新生儿原发性免疫缺陷病筛查及早期诊断 被引量:6

原文传递
导出
摘要 原发性免疫缺陷病(primary immunodeficiency disease,PID)是遗传因素导致免疫细胞或免疫分子缺陷引起免疫功能缺如或降低,导致机体抗感染免疫功能降低的一组疾病。尽管PID临床表现多样,但均具有易导致感染、肿瘤、自身免疫性疾病与致死及致残率高等特点。早期诊断和合理治疗,是拯救PID患儿生命,改善其生活质量的有效措施。在我国优生优育国策指引下,对PID早期诊治愈来愈受到社会和政府部门重视。对新生儿进行PID筛查,无疑对降低医疗负担、提高人口质量具有积极作用。
出处 《中华妇幼临床医学杂志(电子版)》 CAS 2014年第4期21-23,共3页 Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)
基金 国家自然科学基金资助项目(81172878)
  • 相关文献

参考文献5

二级参考文献39

  • 1刘雪芹,孙君轶.严重联合免疫缺陷并发全身播散性卡介苗病一例[J].中华儿科杂志,2007,45(4):314-314. 被引量:5
  • 2Ozen M, Ceyhan M, Sanal O, et al. Recurrent Salmonella bacteremia in interleukin-12 receptor β1 deficiency. J Trop Pediatr, 2006, 52: 296-298.
  • 3Sanal O, Turul T, de Boer T, et al. Presentation of interleukin- 12/-23 receptor β1 deficiency with various clinical symptoms of salmonella infections. J Clin Immunol, 2006, 26: 1-6.
  • 4Dorman SE, Holland SM. Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev, 2000, 11: 321-333.
  • 5Jouanguy E, Doffinger R, Dupuis S, et al. IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men. Curt Opin Immunol, 1999, 11 : 346-351.
  • 6Picard C, Fieschi C, Aitare F, et al. Inherited Interleukin-12 Deficiency: IL12B C, enotype and clinical phenotype of 13 patients from six kindreds. Am J Hum C, enet, 2002, 70: 336-348.
  • 7Claire F, Marita B, Ludovic de B, et al. A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptors. Blood, 2004, 104: 2095-2101.
  • 8Lee PP, Jiang LP, Wang XC, et al. Severe mycobactefial infections in two pairs of Chinese siblings with interleukin-12 receptor betal deficiency. Eur J Pediatr, 2008, 167: 231-232.
  • 9Buekley RH, Sehiff RI, Schiff SE, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr, 1997,130:378-387.
  • 10Puel A, Leonard WJ. Mutations in the gene for the IL-7 receptor result in T(-) B( + )NK( + ) severe combined immunodeficiency disease. Curr Opin Immunol,2000,12:468-473.

共引文献24

同被引文献39

  • 1陈同辛,王玺.原发性免疫缺陷病诊断标准[J].实用儿科临床杂志,2006,21(9):573-576. 被引量:38
  • 2AL-HERZ W,BOUSFIHA A,CASANOVA J L,et al.Primary immunodeficiency diseases:an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency[J].Front Immunol,2014,5(162):1-33.
  • 3COOPER M A,POMMERING T L,KORNYI K.Primary immunodeficiencies[J].Am Fam Physician,2003,68(10):2001-2008.
  • 4SUBBARAYAN A,COLARUSSO G,HUGHES S M,et al.Clinical features that identify children with primary immunodeficiency diseases[J].Pediatrics,2011,127(5):810-816.
  • 5GARNEIRO-SAMPAIO M,JACOB CMA,LEONE C R.A proposal of warning signs for primary immunodeficiencies in the first year of life[J].Pediatr Allergy Immunol,2011,22(3):345-346.
  • 6CHAN K,PUCK J M.Development of population-based newborn screening for severe combined immunodeficiency[J].J Allergy Clin Immunol,2005,115(2):391-398.
  • 7CHASE N M,VERBSKY J W,ROUTES J M.Newborn screening for t-cell deficiency[J].Cuit Opin Allergy Clin Immunol,2010,10(6):521-525.
  • 8CHASE N M,VERBSKY J W,ROUTES J M.Newborn screening for SCID:Three years of experience[J].Ann N Y Acad Sci,2011,1238:99-105.
  • 9PUCK J M.Laboratory technology for population-based screening for severe combined immunodeficiency in neonates:The winner is t-cell receptor excision circles(TRECs)[J].J Allergy Clin Immunol,2012,129(3):607-616.
  • 10BIRTE S,DOBELN U V,FASTH A,et al.Neonatal screening for severe primary immunodeficiency diseases using high- throughput triplex real-time PCR[J].Blood,2012,119(11):2552-2555.

引证文献6

二级引证文献12

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部