Boyer J T, Gall E P, Norman M E, Nilsson U R, Zimmerman T S
J Clin Invest. 1975 Oct;56(4):905-13. doi: 10.1172/JCI108170.
Deficiency of the seventh component of complement has been found in the serum of a 42-yr-old Caucasian woman who has Raynaud's phenomenon, sclerodactyly, and telangiectasia. Partial deficiency was found in the serum of the patient's parents and children, indicating a pattern of inheritance of autosomal codominance. Transfusion experiments indicated that exogenous C7 had a 91-h halk-life in the patient. There was no evidence for C7 synthesis after transfusion. No C7 inhibitors were detected in the patient's serum. The patient's serum was found to support the activation of complement by both the classical and properdin pathways to the C7 stage. The addition of C7 to the patient's serum permitted it to support hemolytic reactions initiated by either pathway. No defects could be detected in plasma or whole blood coagulation. The patient's serum was deficient in opsonizing unsensitized yeast particles in serum and in the generation of chemotactic factor by antigen-antibody complexes and endotoxin. Both deficiencies were corrected by the addition of C7. These observations suggest a key role for C7 for in vitro yeast phagocytosis and chemotaxis generation. However, the patient's lack of infections indicates a relatively minor role for C7 in human resistance to infection.
在一名患有雷诺现象、指（趾）硬皮病和毛细血管扩张症的42岁白种女性血清中，发现了补体第七成分缺乏。在患者的父母和子女血清中发现了部分缺乏，表明这是一种常染色体共显性遗传模式。输血实验表明，外源性C7在患者体内的半衰期为91小时。输血后没有证据表明有C7合成。在患者血清中未检测到C7抑制剂。发现患者血清可支持经典途径和备解素途径的补体激活至C7阶段。向患者血清中添加C7可使其支持由任一途径引发的溶血反应。在血浆或全血凝固方面未检测到缺陷。患者血清在调理血清中未致敏酵母颗粒以及由抗原 - 抗体复合物和内毒素产生趋化因子方面存在缺陷。添加C7后，这两种缺陷均得到纠正。这些观察结果表明C7在体外酵母吞噬作用和趋化因子生成中起关键作用。然而，患者未发生感染表明C7在人类抗感染中作用相对较小。
