期刊文献+

X-连锁无丙种球蛋白血症3例报告 被引量:2

下载PDF
导出
摘要 例1男,5岁,天津蓟县人。因左膝关节肿痛半年于2001年5月21日入院。入院半前年患儿出现左膝关节疼痛,不肿,影响活动,夜间疼痛重,不伴有发热、皮疹及其他关节疼痛,家长未予重视。入院前4个月左膝关节轻微肿胀,外院诊为"关节炎",未正规治疗;入院前2个月左膝关节肿胀明显加重,影响行走及下蹲,故来我院就诊。
出处 《北京医学》 CAS 2010年第11期944-945,共2页 Beijing Medical Journal
  • 相关文献

参考文献5

二级参考文献47

  • 1应大明 王晓川 杨锡强 等.原发性免疫缺陷病的协作网和登记工作[J].中华儿科杂志,1999,37:328-329.
  • 2LeBien T W. Fates of human B-cell precursors. [J]. Blood,2000,96(1 ) :9-23.
  • 3Minegishi Y, Coustan-Smith E, Rapalus L, et al. Mutations in Ig(CD79a) result in a complete block in B-cell development. [ J] .Journal of Clinical Investigation, 1999,104(8) : 1115-1121.
  • 4Wang Y, Kanegane H,Sanal O,et al. Novel Ig(CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. [J]. American Journal of Medical Genetics,2002,108(4) :333-336.
  • 5Milili M, Antunes H, Blanco-Betancourt C, et al. A neecessive agammaglobulinemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. [J]. European Journal of Pediatrics, 2002, 161(9) :479-484.
  • 6Vihinen M, Kwan SP,Lester T, et al. Mutations of the human BTK gene coding for Bruton Tyrosine kinase in X-linked agammaglobulinemia. [J].Human mutation, 1999,13(4) :280-285.
  • 7Mao C, Zhou M, Uckun FM. Crystal Structure of Bruton' s Tyrosine Kinase Domain Suggests a Novel Pathway for Activation and Provides Insights into the Molecular Basis of X-linked Agammaglobulinemia. [ J ].Journal of Biological Chemistry, 2001,276 (44) : 41435-41443.
  • 8Saito K, Scharenberg AM, Kinet JP. Interaction between the Btk PH domain and phosphatidylinositol-3,4,5-trisphesphate directly regulates Btk.The journal of biological chemistry. [J]. Journal of biological chemistry,2001,276(19) : 16201-16206.
  • 9Noordzij JG, de Bmin-Versteeg S,Ganans-Bitter WM,et al. Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. [J]. Pediatric Research,2002,51 (2) : 159-168.
  • 10Nomura K, Kanegane H, Karasuyama H, et al. Genetic defect in human X-linked agananablobulinemia impedes a maturafional evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. [J]. Blood,2000,96(2) :610-617.

共引文献24

同被引文献16

引证文献2

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