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.
journal_name
Bloodjournal_title
Bloodauthors
Józsi M,Licht C,Strobel S,Zipfel SL,Richter H,Heinen S,Zipfel PF,Skerka Cdoi
10.1182/blood-2007-09-109876subject
Has Abstractpub_date
2008-02-01 00:00:00pages
1512-4issue
3eissn
0006-4971issn
1528-0020pii
blood-2007-09-109876journal_volume
111pub_type
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