title: Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.
abstract: A subgroup of patients with the most severe form of the Hemolytic Uremic Syndrome (HUS) presents mutations in the complement regulatory protein factor H. The functional analyses of the factor H mutant proteins purified from some of these patients have shown a specific defect in the capacity to control complement activation on cellular surfaces. Here, we show that these factor H-related complement regulatory defects can be detected in the patients' serum with a simple hemolytic assay. Data obtained from HUS patients and control individuals indicate that this assay is a useful tool for the molecular diagnosis of factor H-related HUS.
authors.affiliation: Unidad de Inmunología, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. psanchez.hulp@salud.madrid.org
authors.forename: P
authors.initials: P
authors.lastname: Sánchez-Corral
authors.forename: C
authors.initials: C
authors.lastname: González-Rubio
authors.forename: S
authors.initials: S
authors.lastname: Rodríguez de Córdoba
authors.forename: M
authors.initials: M
authors.lastname: López-Trascasa
mesh_terms: D000818:Animals; D003167:Complement Activation; D017242:Complement Factor H / Q000235:genetics*; D003165:Complement System Proteins / Q000032:analysis; D019610:Cytoprotection; D006461:Hemolysis; D006463:Hemolytic-Uremic Syndrome / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D009154:Mutation; D012756:Sheep
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H; D003165:Complement System Proteins