Mutations in complement C3 from aHUS patients

Blood. 2015 Apr 9;125(15):2316-8. doi: 10.1182/blood-2015-02-625285.

Abstract

In this issue of Blood, Schramm et al demonstrate that the majority of mutations in complement C3 identified in atypical hemolytic uremic syndrome (aHUS) patients cause dysregulation in the alternative pathway of complement.

Publication types

  • Comment

MeSH terms

  • Atypical Hemolytic Uremic Syndrome / genetics*
  • Atypical Hemolytic Uremic Syndrome / metabolism*
  • Complement C3 / genetics*
  • Complement C3 / metabolism*
  • Female
  • Humans
  • Male
  • Protein Interaction Maps*

Substances

  • Complement C3

Associated data

  • PDB/2WII
  • PDB/4ONT