Fontana L, Tedesco F, De Carolis C, Roncelli L, Teggi A, Paffetti A, Perricone R
Ric Clin Lab. 1987 Jan-Mar;17(1):19-25.
A 15-year-old woman with a history of recurrent episodes of meningococcal infections was admitted to our hospital with signs and symptoms indicating a meningeal inflammation. Since in the last few years some of the patients affected by recurrent meningococcal infections have been recognized to have selective complement deficiencies, the patient's serum was studied for determining the complement function. C8 was found to be present only in traces, with a pattern of partial identity as compared with that of the normal human serum. Moreover, total hemolytic complement was undetectable and could be completely restored with purified C8, but not with other complement components; thus, we concluded for the presence of a C8 deficiency state. Further reconstitution experiments carried out with sera having selective deficiencies of either C8 beta or C8 alpha-gamma subunits allowed us to recognize the presence of a dysfunctional C8 molecule lacking the beta chain, but possessing the alpha-gamma subunit. The clinical history of the patient, characterized by recurrent meningococcal infections, further supports the current concept of an increased susceptibility of the C8 beta-deficient patients to Neisseria meningitidis infections.
一名有复发性脑膜炎球菌感染病史的15岁女性因出现提示脑膜炎症的体征和症状入住我院。由于在过去几年中，一些受复发性脑膜炎球菌感染影响的患者被发现存在选择性补体缺陷，因此对该患者的血清进行了研究以确定补体功能。发现C8仅微量存在，与正常人血清相比呈现部分相同的模式。此外，总溶血补体无法检测到，用纯化的C8可使其完全恢复，但用其他补体成分则不能；因此，我们得出存在C8缺陷状态的结论。用选择性缺乏C8β或C8α-γ亚基的血清进行的进一步重组实验使我们认识到存在一种缺乏β链但具有α-γ亚基的功能失调的C8分子。该患者以复发性脑膜炎球菌感染为特征的临床病史进一步支持了目前关于C8β缺陷患者对脑膜炎奈瑟菌感染易感性增加的概念。
