单卵双胞胎中补体因子D的功能缺陷
Functional deficiency of complement factor D in a monozygous twin.
作者信息
Kluin-Nelemans H C, van Velzen-Blad H, van Helden H P, Daha M R
出版信息
Clin Exp Immunol. 1984 Dec;58(3):724-30.
Abstract
An adult twin with recurrent bacterial infections was found to have a partial functional deficiency of complement factor D. Full restoration of alternative pathway activity and zymosan- or cobra venom factor-induced consumption of C3 and B was found after reconstitution of patient's serum with purified D. Family studies revealed normal D levels in the mother, a brother and another sister. After gel filtration of patient's sera only little D activity could be detected in the fractions, and trypsin activation of the fractions also did not uncover detectable precursor D activity.
摘要
一名患有复发性细菌感染的成年双胞胎被发现补体因子D存在部分功能缺陷。用纯化的D重构患者血清后，替代途径活性以及酵母聚糖或眼镜蛇毒因子诱导的C3和B消耗完全恢复。家族研究显示，母亲、一个兄弟和另一个姐妹的D水平正常。对患者血清进行凝胶过滤后，仅在部分馏分中检测到少量D活性，对这些馏分进行胰蛋白酶激活也未发现可检测到的前体D活性。
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