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Functional deficiency of complement factor D in a monozygous twin.

Authors: H C, Kluin-Nelemans; H, van Velzen-Blad; H P, van Helden; M R, Daha;

Functional deficiency of complement factor D in a monozygous twin.

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.

Keywords

Adult, Complement Activating Enzymes, Complement Pathway, Alternative, Bacterial Infections, Complement System Proteins, Twins, Monozygotic, Pregnancy, Recurrence, Chromatography, Gel, Diseases in Twins, Humans, Complement Factor D, Female, Respiratory Tract Infections

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
19
Top 10%
Top 10%
Average
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