Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H

Mol Immunol. 2004 May;41(1):81-4. doi: 10.1016/j.molimm.2004.01.003.

Abstract

A subgroup of patients with the most severe form of the Hemolytic Uremic Syndrome (HUS) presents mutations in the complement regulatory protein factor H. The functional analyses of the factor H mutant proteins purified from some of these patients have shown a specific defect in the capacity to control complement activation on cellular surfaces. Here, we show that these factor H-related complement regulatory defects can be detected in the patients' serum with a simple hemolytic assay. Data obtained from HUS patients and control individuals indicate that this assay is a useful tool for the molecular diagnosis of factor H-related HUS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Complement Activation
  • Complement Factor H / genetics*
  • Complement System Proteins / analysis
  • Cytoprotection
  • Hemolysis
  • Hemolytic-Uremic Syndrome / blood
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / immunology*
  • Humans
  • Mutation*
  • Sheep

Substances

  • CFH protein, human
  • Complement Factor H
  • Complement System Proteins