Molecular defects of the C7 gene in two patients with complement C7 deficiency

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Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency

Complement C7 deficiency is an autosomal recessive disorder well known to be associated with increased susceptibility to meningococcal infection and has mostly been reported in Caucasians. In the Korean population, no case of C7 deficiency has been reported to date. Recently we experienced an 11-yr-old girl with meningococcal meningitis who was diagnosed as having C7 deficiency based upon the u...

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Human complement C7 and C9 in fetal and newborn sera.

Using specific immune sera, C7, C9, and C3 activator were detected in sera from human fetuses more than 16 weeks old and in newborn samples. Levels of C9 in cord sera ranged between 10 and 30% of those present in sera from adult subjects. The mean value of Ce activator was about half that in maternal blood. The mean level of C7 in newborns was nearly 70% of the amount in normal adults.

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Isolation, characterization, and cloning of porcine complement component C7.

Activation of the complement system through the classical, alternative, or lectin pathway results in the formation of the terminal complement complex. C7 plays an integral role in the assembly of this complex with target cell membranes. To date, only human C7 has been cloned and characterized; thus, in this study, we characterized the porcine complement component C7. Porcine C7 was isolated by ...

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ژورنال

عنوان ژورنال: Immunology

سال: 2006

ISSN: 0019-2805,1365-2567

DOI: 10.1111/j.1365-2567.2006.02364.x