Article
Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.
European journal of immunology - 1 May 2007
Rameix-Welti Marie-Anne, Régnier Catherine H, Bienaimé Frank, Blouin Jacques, Schifferli Jurg, Fridman Wolf H, Sautès-Fridman Catherine, Frémeaux-Bacchi Veronique
Abstract excerpt
Deficiencies in terminal complement components, including the component C7, are uncommon and associated with an increased risk of recurrent systemic neisserial infection. A total of 22 molecular defects have been reported in the C7 gene with both complete (C7Q0) and subtotal (C7SD) C7 deficiencies. In this study we report the molecular basis of nine new cases of C7 deficiencies that were characterized by...
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