Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

Blood. 2008 Feb 1;111(3):1512-4. doi: 10.1182/blood-2007-09-109876. Epub 2007 Nov 15.

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a severe renal disease that is associated with defective complement regulation caused by multiple factors. We previously described the deficiency of factor H-related proteins CFHR1 and CFHR3 as predisposing factor for aHUS. Here we identify in an extended cohort of 147 aHUS patients that 16 juvenile individuals (ie, 11%) who either lacked the CFHR1/CFHR3 completely (n = 14) or showed extremely low CFHR1/CFHR3 plasma levels (n = 2) are positive for factor H (CFH) autoantibodies. The binding epitopes of all 16 analyzed autoantibodies were localized to the C-terminal recognition region of factor H, which represents a hot spot for aHUS mutations. Thus we define a novel subgroup of aHUS, termed DEAP HUS (deficiency of CFHR proteins and CFH autoantibody positive) that is characterized by a combination of genetic and acquired factors. Screening for both factors is obviously relevant for HUS patients as reduction of CFH autoantibody levels represents a therapeutic option.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies / immunology*
  • Blood Proteins / deficiency
  • Blood Proteins / genetics
  • Blood Proteins / metabolism*
  • Complement C3b Inactivator Proteins / deficiency
  • Complement C3b Inactivator Proteins / genetics
  • Complement C3b Inactivator Proteins / metabolism*
  • Complement Factor H / immunology*
  • Female
  • Hemolytic-Uremic Syndrome / genetics
  • Hemolytic-Uremic Syndrome / immunology*
  • Hemolytic-Uremic Syndrome / metabolism*
  • Humans
  • Male
  • Pedigree

Substances

  • Autoantibodies
  • Blood Proteins
  • CFHR1 protein, human
  • CFHR3 protein, human
  • Complement C3b Inactivator Proteins
  • Complement Factor H