Nielsen H E, Koch C
Clin Immunol Immunopathol. 1987 Aug;44(2):134-9. doi: 10.1016/0090-1229(87)90060-2.
We report a family in which three males in two generations had meningococcal infections; one of them died. Hemolytic activity of the alternative complement pathway in the two survivors and in one healthy boy belonging to the family was reduced, as measured in a kinetic system. These three individuals had 10-11% of normal properdin concentration in plasma, as measured by a catching ELISA method, while the other complement components were normal. Hemolytic complement activity was normalized when purified properdin was added. The data are compatible with an X-linked mode of inheritance of properdin deficiency.
我们报告了一个家族,其中两代中的三名男性患有脑膜炎球菌感染;其中一人死亡。通过动力学系统测量,两名幸存者以及该家族中的一名健康男孩的替代补体途径的溶血活性降低。通过捕获ELISA方法测量,这三名个体血浆中的备解素浓度为正常水平的10 - 11%,而其他补体成分正常。当添加纯化的备解素时,溶血补体活性恢复正常。这些数据与备解素缺乏的X连锁遗传模式相符。