Results Twenty-five patients (78%) were positive for C3Nefs. Three C3Nef-positive patients
were also positive for FBAAs and one of these patients additionally carried two novel
missense variants in CFH. Of the seven C3Nef-negative patients, one patient was positive
for FHAAs and two patients carried CFH variants that may be causally related to their DDD
phenotype. C3CASP was the most sensitive C3Nef-detection assay. C3CASP and IFE are
complementary because C3CSAP measures the stabilizing properties of C3Nefs, whereas …