A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

Atypical hemolytic uremic syndrome (aHUS) is a rare renal thrombotic microangiopathy commonly associated with rare genetic variants in complement system genes, unique to each patient/family. Here, we report 14 sporadic aHUS patients carrying the same mutation, R139W, in the complement C3 gene. The c...

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Detalhes bibliográficos
Main Authors: Roumenina, Lubka T., Frimat, Marie, Miller, Elizabeth C., Provot, Francois, Dragon-Durey, Marie-Agnes, Bordereau, Pauline, Bigot, Sylvain, Hue, Christophe, Satchell, Simon C., Mathieson, Peter W., Mousson, Christiane, Noel, Christian, Sautes-Fridman, Catherine, Halbwachs-Mecarelli, Lise, Atkinson, John P., Lionet, Arnaud, Fremeaux-Bacchi, Veronique
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2012
Assuntos:
Immunobiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3359738/
https://ncbi.nlm.nih.gov/pubmed/22246034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-10-383281
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