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Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement

Gloria F Gerber1, Xiang-Zuo Pan2, Howard M Lederman3

  • 1Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross Research Building, Room 1025, Baltimore, MD, 21205, USA. ggerber5@jhmi.edu.

Journal of Clinical Immunology
|April 26, 2023
PubMed
Summary

No abstract available in PubMed .

Keywords:
Alternative pathway of complementComplement factor BComplement systemPrimary immunodeficiency

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A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
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The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
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