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Blood, 1 February 2008, Vol. 111, No. 3, pp. 1512-1514.
Prepublished online as a Blood First Edition Paper on November 15, 2007; DOI 10.1182/blood-2007-09-109876.
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Submitted September 4, 2007
Accepted November 11, 2007
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
Mihaly Jozsi, Christoph Licht, Stefanie Strobel, Svante LH Zipfel, Heiko Richter, Stefan Heinen, Peter F. Zipfel*, and Christine Skerka
Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
Division of Nephrology, Hospital for Sick Children, Toronto, Canada
Friedrich Schiller University, Jena, Germany
* Corresponding author; email: peter.zipfel{at}hki-jena.de.
Atypical Hemolytic Uremic Syndrome (aHUS) is a severe renal disease which 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 (i.e. 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 obiously relevant for HUS patients as reduction of CFH autoantibody levels represents a therapeutic option.
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