来自同一家庭的2例同胞患儿因白介素-1受体相关性激酶4突变导致致死性肺炎球菌性脑膜炎

• 作 者: Enders A. PannickeU. Berner R. 张振
• 出 处: 世界核心医学期刊文摘(儿科学分册)
• 发表日期: 2005年09期
• 关键词: 同一家庭 激酶 受体 化脓性细菌感染 免疫缺陷 炎症反应 月龄 缺失 碱基对 纯合型

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterizedby a poor inflammatory response to pyogenic infections.

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.