Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome

ConclusionC3 p.W1034R results in an inherited form of aHUS that often presents with recurrent episodes, possibly because of impaired interactions between the C3d and C-terminal domains of factor H. Following comprehensive genomic analysis, functional validation of C3 p.W1034R strengthens the molecular basis for aHUS pathophysiology.

Source: Molecular Genetics & Genomic Medicine - October 5, 2023 Category: Genetics & Stem Cells Authors: Masafumi Tsuchida, Shin Goto, Hirofumi Watanabe, Sawako Goto, Hiroki Yamaguchi, Ichiei Narita Tags: CLINICAL REPORT Source Type: research