Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein

Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein

The impairment of the alternative complement pathway contributes to rare kidney diseases such as atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). We recently described an aHUS patient carrying an exceptional gain-of-function (GoF) mutation (S250C) in the classical complement pa...

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Autores principales: Aleksandra Urban, Daria Kowalska, Grzegorz Stasiłojć, Alicja Kuźniewska, Anna Skrobińska, Emilia Arjona, Eugenia Castellote Alonso, María Ángeles Fenollosa Segarra, Ilse Jongerius, Robbert Spaapen, Simon Satchell, Marcel Thiel, Stanisław Ołdziej, Santiago Rodriguez de Córdoba, Marcin Okrój
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
complement system
aHUS
C3 glomerulopathy
complement C2
endothelial cells
Immunologic diseases. Allergy
RC581-607
Acceso en línea:https://doaj.org/article/717a2faa64dc496784006a113f6cb136
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https://doaj.org/article/717a2faa64dc496784006a113f6cb136

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