Background Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB),
thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies …

Gene variants in the alternative pathway of the complement system strongly associate with
atypical hemolytic uremic syndrome (aHUS), presumably by predisposing to increased …

Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …

Summary OTHER ARTICLES PUBLISHED IN THIS TRANSLATIONAL MINI-REVIEW
SERIES ON COMPLEMENT FACTOR H Genetics and disease associations of human …

Mutations in the gene encoding complement factor H (CFH) that alter the C3b/polyanions-
binding site in the C-terminal region impair the capacity of factor H to protect host cells …

Dense deposit disease and glomerulonephritis with isolated C3 deposits are
glomerulopathies characterized by deposits of C3 within or along the glomerular basement …

Introduction: Membranoproliferative glomerulonephritis type II or dense deposit disease
(MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage renal disease …

Dysfunction of the alternative pathway of complement in the fluid phase results in deposition
of complement factors in the renal glomeruli. This results in glomerular injury and an …

Background Mutations in factor H (HF1) have been reported in a consistent number of
diarrhoea-negative, non-Shiga toxin-associated cases of haemolytic uraemic syndrome …

Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement
regulation. Disease-associated mutations have been described in the genes encoding the …