Factor H and its related proteins in life-threatening diseases in children

Extract

Atypical hemolytic uremic syndrome (aHUS) is a rare, severe disease associated with mutations in complement regulators factor H (CfH), factor I (CfI) and membrane cofactor protein (MCP), and gain-of-function mutations in complement factors C3 and B. The majority of aHUS patients have mutations in CfH (30%), while 10% of patients have anti-CfH autoantibodies, associated with deletions in the adjacent CFHR genes encoding 5 CfH-related (CfHR) proteins with unclear functions. Recently, we identified mutations in CFH and CFHR1-5 associated with meningococcal disease. We aim to set up ELISA’s to detect and study CfH and CfHRs and genetic screens for mutations, copy number and deletions at the CFH and CFHR1-5 locus. …