Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.
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.
Sánchez-Corral
P
P
Unidad de Inmunología, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. psanchez.hulp@salud.madrid.org
González-Rubio
C
C
Rodríguez de Córdoba
S
S
López-Trascasa
M
M
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
C493495:CFH protein, human; D017242:Complement Factor H; D003165:Complement System Proteins