Figure 2.

Genetic analysis of the patient and complement activation assays. (A) Data obtained from deep sequencing show a G34R mutation in the C1qC chain. (B) Measurement of the alternative pathway (Wieslab), classical pathway (CP) (Wieslab), C1q, C3, and C4 with nephelometer measurement in the diagnostic laboratory. (C) Reconstitution of the CP by adding different concentrations of purified C1q to the patient serum. As a positive control, normal human serum (NHS) was used, and as a negative control, heat-inactivated NHS (ΔNHS) was used. C4 deposition was used as detection antibody. (D) C5b9 deposition after adding purified C1q to the patient serum and C1q depleted serum. (E) C3c deposition.