Table 2

Complement studies of families 1 and 2 and patient 3

F1: I1F1: I2P1F2: I1F2: I2P2P3
Families are indicated by F1 for patient 1 (P1) and F2 for patient 2 (P2). Two results are given for patient 1 corresponding to investigations 3 months after disease onset (In1) and at the time of end stage renal disease (In2). Plasma concentrations of factor B, C3, and C4 antigens were measured by nephelometry (Dade Behring, Paris La Defense, France). Plasma concentrations of factor I were determined by ELISA using an anti-factor I polyclonal antibody (Calbiochem, Meudon, France).
CH50 (70–130%)1159689111100788775
C3 (660–1250 mg/l)87612306017161060456624990
Factor B (90–320 mg/l)147177551071536176123
C4 (93–320 mg/l)19884186311145140154256
H ag (70–130%)1111157610213685126107
Factor I ag (70–130%)4012040481338010936
FH geneNo mutationNo mutationNo mutation
FI geneG456XG456G456XD506D506VD506VW528X