Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS).

Methods in molecular biology (Clifton, N.J.) 2014

["Roumenina, Lubka T", "Roquigny, Roxane", "Blanc, Caroline", "Poulain, Nelly", "Ngo, St\u00e9phanie", "Dragon-Durey, Marie-Agn\u00e8s", "Fr\u00e9meaux-Bacchi, V\u00e9ronique"]

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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