Functional Evaluation of Factor H genetic and Acquired Abnormalities: Application for Atypical Hemolytic Uremic Syndrome (aHUS) View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2013-10-22

AUTHORS

Lubka T. Roumenina , Roxane Roquigny , Caroline Blanc , Nelly Poulain , Stéphanie Ngo , Marie-Agnès Dragon-Durey , Véronique Frémeaux-Bacchi

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. More... »

PAGES

237-247

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-62703-724-2_19

DOI

http://dx.doi.org/10.1007/978-1-62703-724-2_19

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050120966

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24218264


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194 Cordeliers Research Center, INSERM UMRS 872, Paris, France
195 Université Paris Descartes, Sorbonne Paris Cité, Paris, France
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