Abstract
The atypical hemolytic uremic syndrome (aHUS) is a paradigm of a disease, caused by overactivation of the alternative complement pathway secondary to a not well-understood trigger event. About 60 % of the patients present genetic or acquired abnormalities in the proteins of the alternative complement pathway. In 40 % of the cases the affected protein is the complement regulator Factor H (FH)—30 % due to mutations and 10 % because of anti-FH autoantibodies. Here we describe the detailed protocol for a rapid test to analyse the functional defect associated with genetic or acquired FH-related abnormalities. It can be applied for the characterization of the underlying complement defect in aHUS, based on spontaneous lysis of non-sensitized sheep erythrocytes in contact with patients’ plasma or serum.
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Acknowledgments
This work was supported by grants from Agence Nationale de la Recherche (ANR Genopath 2009–2012 09geno03101I and ANR Biotheque 2008–2011 R08086DS), Assistance Publique-Hôpitaux de Paris (Programme Hospitalier de Recherche Clinique (AOM05130/P051065 and AOM08198), by AIRG France, by Université Paris Descartes and Université Pierre et Marie Curie and by INSERM.
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Roumenina, L.T. et al. (2014). Functional Evaluation of Factor H genetic and Acquired Abnormalities: Application for Atypical Hemolytic Uremic Syndrome (aHUS). In: Gadjeva, M. (eds) The Complement System. Methods in Molecular Biology, vol 1100. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-724-2_19
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DOI: https://doi.org/10.1007/978-1-62703-724-2_19
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