Schlesinger M, Mashal U, Levy J, Fishelson Z
Pediatric Department, Barzilai Medical Center, Ashkelon, Israel.
Acta Paediatr. 1993 Sep;82(9):744-7. doi: 10.1111/j.1651-2227.1993.tb12550.x.
Hereditary properdin deficiency is a rare genetic disorder of the complement system. Three propositi and six additional family members with properdin deficiency have been found following analysis of the hemolytic activity of the classical (CH50) and the alternative (AP50) complement pathways in the sera of 101 survivors of meningococcal infections and 59 survivors of severe pneumococcal and Haemophilus influenza infections. All the properdin-deficient individuals had undetectable levels of properdin by radial immunodiffusion and by Western blotting. They belonged to three non-related families of Tunisian Jews who came from different parts of Tunisia. Two patients had a meningococcal infection at 15 and 16 years of age, respectively, and one had Haemophilus influenza meningitis at 1.5 years of age. In contrast to the fulminant and fatal course of meningococcal infection which was previously described in some properdin-deficient patients, our patients had a relatively mild disease. Properdin deficiency may not be as rare as previously thought. Analysis of AP50, in addition to CH50, in sera of patients who had meningococcal infection, will probably disclose many more cases of hereditary properdin deficiency. In addition, our findings indicate that, as in other complement abnormalities, hereditary properdin deficiency may also be associated with the ethnic origin of the patient.
遗传性备解素缺乏症是一种罕见的补体系统遗传性疾病。在对101名脑膜炎球菌感染幸存者和59名严重肺炎球菌及流感嗜血杆菌感染幸存者的血清进行经典补体途径（CH50）和替代补体途径（AP50）溶血活性分析后，发现了3名先证者以及另外6名患有备解素缺乏症的家庭成员。所有备解素缺乏的个体通过放射免疫扩散法和蛋白质印迹法检测，其备解素水平均无法检测到。他们属于来自突尼斯不同地区的三个不相关的突尼斯犹太人家族。两名患者分别在15岁和16岁时感染了脑膜炎球菌，一名患者在1.5岁时感染了流感嗜血杆菌脑膜炎。与先前在一些备解素缺乏患者中描述的脑膜炎球菌感染的暴发性和致命病程不同，我们的患者病情相对较轻。备解素缺乏症可能不像以前认为的那么罕见。除了CH50之外，对患有脑膜炎球菌感染患者的血清进行AP50分析，可能会发现更多遗传性备解素缺乏症病例。此外，我们的研究结果表明，与其他补体异常情况一样，遗传性备解素缺乏症也可能与患者的种族起源有关。
