Ontology highlight
ABSTRACT:
SUBMITTER: Osborne AJ
PROVIDER: S-EPMC6324840 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Osborne Amy J AJ Breno Matteo M Borsa Nicolo Ghiringhelli NG Bu Fengxiao F Frémeaux-Bacchi Véronique V Gale Daniel P DP van den Heuvel Lambertus P LP Kavanagh David D Noris Marina M Pinto Sheila S Rallapalli Pavithra M PM Remuzzi Giuseppe G Rodríguez de Cordoba Santiago S Ruiz Angela A Smith Richard J H RJH Vieira-Martins Paula P Volokhina Elena E Wilson Valerie V Goodship Timothy H J THJ Perkins Stephen J SJ
Journal of immunology (Baltimore, Md. : 1950) 20180302 7
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with dysregulation and overactivation of the complement alternative pathway. Typically, gene analysis for aHUS and C3G is undertaken in small patient numbers, yet it is unclear which genes most frequently predispose to aHUS or C3G. Accordingly, we performed a six-center analysis of 610 rare genetic variants in 13 mostly complement genes (<i>CFH</i>, <i>CFI</i>, <i>CD46</i>, <i>C3</i>, <i>CFB</i>, <i>CFHR1</i>, < ...[more]