… has not developed aHUS or any other complement-related … developed to irreversible
end-stage renal disease, with very poor prognosis. aHUS is an argent and life-threatening disorder, …

… Notably, 10 of these 134 mutation carriers developed the disease, whereas there were none
… the predisposition to aHUS and environmental risk factors that trigger disease development. …

… led to make efforts to develop precise complement functional and … complement regulatory
proteins (CRPs): complement factor … 80–100% in the presence of mutations in FH or FI. Those …

… disease severity: patient 1, who developed disease as a 10-month-old, has borderline low
FH levels, while patient 2, who developed … and predisposes to complement dysregulation. FH …

… mutant variants in complement factors, including CFB mutations, or auto-antibodies against
factor … all individuals carrying CFB mutations associated with aHUS develop disease (11, 12, …

… Our meta-analysis on functional complement gene mutations … The complement factor B
gene holds the AP convertase’s (… Genetic predisposition to aHUS can be inherited in an …

… mutations in DGKE, is out of the scope of this review. … Besides, the pipeline of new
complement blockers developed in … complement factor H-dependent HUS in a mouse model117. …

… in the complement factor H gene (c.3450A>G, p.I1150M). … the specific combination of
predisposing factors. Rather than … the CentoMD or the Human Gene Mutation Database were kept. …

… , and VTN confer a predisposition to developing aHUS, rather … , and low levels of the
complement component C3. Some … complement gene mutations in atypical hemolytic uremic …

… detected; 4 out of 17 developed ESKD, 2 of whom died. Fifty-… 5 had mutations in multiple
complement genes or a mutation … referencing recombinant complement factor I production or …