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

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The Complement System

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1100))

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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Authors and Affiliations

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

    Lubka T. Roumenina & Caroline Blanc

  2. Cordeliers Research Center, Université Pierre et Marie Curie, Université Paris Descartes, Paris, France

    Roxane Roquigny

  3. Service d’Immunologie Biologique, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France

    Nelly Poulain & Stéphanie Ngo

  4. Cordeliers Research Center, INSERM UMRS 872, Paris, France

    Marie-Agnès Dragon-Durey

  5. Université Paris Descartes, Sorbonne Paris Cité, Paris, France

    Marie-Agnès Dragon-Durey

  6. Assitance Publique-Hopitaux de Paris Hopit al Europeen Georges-Pompidou, Service d’Immunologie Biologique, Paris Cedex, France

    Marie-Agnès Dragon-Durey

  7. Assitance Publique-Hopitaux de Paris Hopit al Europeen Georges-Pompidou, Service d’Immunologie Biologique, APHP, Paris, France

    Véronique Frémeaux-Bacchi

Authors
  1. Lubka T. Roumenina
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  2. Roxane Roquigny
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  3. Caroline Blanc
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  4. Nelly Poulain
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  5. Stéphanie Ngo
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  6. Marie-Agnès Dragon-Durey
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  7. Véronique Frémeaux-Bacchi
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Editors and Affiliations

  1. Division of Infectious Diseases, Brigham and Women’s Hospital, Harvard University Harvard Medical School, Boston, Massachusetts, USA

    Mihaela Gadjeva

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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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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-723-5

  • Online ISBN: 978-1-62703-724-2

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