Dataset Information

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS.

SUBMITTER: Fremeaux-Bacchi V

PROVIDER: S-EPMC2597601 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

Frémeaux-Bacchi Veronique V Miller Elizabeth C EC Liszewski M Kathryn MK Strain Lisa L Blouin Jacques J Brown Alison L AL Moghal Nadeem N Kaplan Bernard S BS Weiss Robert A RA Lhotta Karl K Kapur Gaurav G Mattoo Tej T Nivet Hubert H Wong William W Gie Sophie S Hurault de Ligny Bruno B Fischbach Michel M Gupta Ritu R Hauhart Richard R Meunier Vincent V Loirat Chantal C Dragon-Durey Marie-Agnès MA Fridman Wolf H WH Janssen Bert J C BJ Goodship Timothy H J TH Atkinson John P JP

Blood 20080916 13

Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations ar ...[more]

PMID: 18796626

Dataset Information

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

Publications

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.
| S-EPMC6391106 | biostudies-literature

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
| S-EPMC4503813 | biostudies-literature

Efficacy of Eculizumab in Coexisting Complement C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome.
| S-EPMC7879116 | biostudies-literature

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
| S-EPMC4152807 | biostudies-literature

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
| S-EPMC240728 | biostudies-literature

The development of atypical hemolytic uremic syndrome depends on complement C5.
| S-EPMC3014042 | biostudies-literature

Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
| S-EPMC4147975 | biostudies-literature

Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
| S-EPMC3530919 | biostudies-literature

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
| S-EPMC1765442 | biostudies-literature

Atypical hemolytic uremic syndrome.
| S-EPMC3863953 | biostudies-literature