The Role of Germline Variants in Complementary Genes in PNH Pathophysiology

The only well-documented germline variants of complement genes are the C5 polymorphism PRG-885-HIS, which prevents eculizumab binding. Germline CFH variants were significantly more frequent among patients with PNH than in controls or in a public database from the 1000 Genomes Project. In contrast, the more common variants CFH PHIS-402-TIR and CR1-PHIS-1208-RG were not associated with a different disease presentation or response to eculizmab.