| http://purl.uniprot.org/citations/18006700 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18006700 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18006700 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2007-09-109876"xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2007-09-109876"xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Richter H."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Richter H."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Skerka C."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Skerka C."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Zipfel P.F."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Zipfel P.F."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Strobel S."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Strobel S."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Licht C."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Licht C."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Heinen S."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Heinen S."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Jozsi M."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Jozsi M."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Zipfel S.L."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/author | "Zipfel S.L."xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/18006700 | http://purl.uniprot.org/core/name | "Blood"xsd:string |