Sequence and copy number variations in the human CFHR–Factor H gene cluster
comprising the complement genes CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, and Factor H …

The hemolytic uremic syndrome is characterized by the triad of microangiopathic hemolytic
anemia, thrombocytopenia and acute renal failure. There are two general types. One occurs …

C3 glomerulopathy describes glomerular pathology associated with predominant deposition
of complement C3 including dense deposit disease and C3 glomerulonephritis. Familial C3 …

Complement is a major innate immune defense against pathogens, tightly regulated to
prevent host tissue damage. Atypical hemolytic uremic syndrome (aHUS) is characterized by …

The efficiency of the complement system as an innate immune defense mechanism depends
on a fine control that restricts its action to pathogens and prevents non-specific damage to …

Results All patients presented with hematuria, associated with chronic renal failure and
proteinuria in five patients, three of whom had nephrotic syndrome. Five patients had …

Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have
been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study …

Background Sequence analysis of the regulators of complement activation (RCA) cluster of
genes at chromosome position 1q32 shows evidence of several large genomic duplications …

In the past 20 years, we have witnessed tremendous advances in our ability to diagnose and
treat genetic diseases of the kidney caused by complement dysregulation. Staggering …

Inherited hemolytic-uremic syndrome (HUS) is unusual. We report the occurrence of HUS in
two siblings; one died at an early age while the other (the proband) has presented with three …