Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome

Research output: Contribution to journalArticle


Most cases of hemolytic uremic syndrome (HUS) are caused by infection with enterohemorrhagic Escherichia coli (EHEC). Genetic defects causing uncontrolled complement activation are associated with the more severe atypical HUS (aHUS). Non-EHEC infections can trigger the disease, however, complement defects predisposing to such infections have not yet been studied. We describe a 2-month-old patient infected with different Gram-negative bacterial species resulting in aHUS. Serum analysis revealed slow complement activation kinetics. Rare variant R229C was found in complement inhibitor vitronectin. Recombinant mutated vitronectin showed enhanced complement inhibition in vitro and may have been a predisposing factor for infection. Our work indicates that genetic changes in aHUS can not only result in uncontrolled complement activation but also increase vulnerability to infections contributing to aHUS.


External organisations
  • Radboud University Nijmegen
  • University Hospitals Leuven
  • VU University Medical Center
  • University Medical Center Groningen
  • Maastricht University
  • University of Gdansk
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics


  • genetic predisposition, Infection, Hemolytic uremic syndrome
Original languageEnglish
Pages (from-to)93-96
Number of pages4
JournalJournal of Human Genetics
Issue number1
Publication statusPublished - 2018 Jan 1
Publication categoryResearch