Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H
P Sánchez-Corral, C Gonzalez-Rubio… - Molecular …, 2004 - Elsevier
Molecular immunology, 2004•Elsevier
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 …
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 …
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.
Elsevier