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Methods Mol Biol. 2014;1100:237-47. doi: 10.1007/978-1-62703-724-2_19.

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

Author information

1
Cordeliers Research Center, INSERM UMRS 872, Université Pierre et Marie Curie, and Université Paris Descartes, Paris, France.

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.

PMID:
24218264
DOI:
10.1007/978-1-62703-724-2_19
[Indexed for MEDLINE]

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