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- Title
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement.
- Authors
Gerber, Gloria F.; Pan, Xiang-Zuo; Lederman, Howard M.; Brady, Tammy M.; Brodsky, Robert A.
- Abstract
Purified FB or serial dilutions of serum is mixed with the depleted serum, allowing for APC-mediated hemolysis proportional to the amount of FB in the sample. C5b-9 deposition induced by sialidase treatment in patient serum and NHS correlates with cell killing in the mHam and indicates that APC function is impaired in patient serum. However, in the presence of patient serum, treatment of cells with sialidase did not lead to increased C5b-9 deposition above NHS (0.3% in untreated cells vs 1.85% in sialidase-treated cells). The lack of complement activation due to sialidase in patient serum but intact complement-mediated cell killing with STX-1 suggests the patient's mutation in FB disrupts APC function.
- Subjects
MACULAR degeneration; HEMOLYTIC-uremic syndrome; GENETIC mutation
- Publication
Journal of Clinical Immunology, 2023, Vol 43, Issue 6, p1134
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-023-01496-6