Abstract Background. Atypical HUS (aHUS) is thought to be caused by predisposing
mutations in genes encoding complement (regulating) proteins, such as Factor H (CFH) …

Background Atypical hemolytic uremic syndrome (aHUS) is associated with mutations
affecting complement proteins and regulators and with autoantibodies against complement …

Background: Genetic defects in complement proteins reportedly contribute to the atypical
hemolytic uremic syndrome (aHUS). Numerous genetic studies have been published in …

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

Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-
associated and diarrhoea-negative haemolytic uraemic syndrome (D− HUS). We analysed …

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 …

Introduction Atypical hemolytic uremic syndrome (aHUS) is mainly due to complement
regulatory gene abnormalities with a dominant pattern but incomplete penetrance. Thus …

Atypical hemolytic uremic syndrome (aHUS) is a rare disorder caused by dysregulation of
the complement alternative pathway, and associated with mutations in genes of complement …

Background Inherited abnormalities of complement are found in∼ 60% of patients with
atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In …

The past decade has seen the identification of mutations in the genes for complement factor
H (CFH)(1–6), membrane co-factor protein (MCP)(7–12), and factor I (CFI)(9, 13–15) as …