Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease.
Activated protein C is an anticoagulant plasma protease enzyme that inactivates Factors V and VIII in plasma. Normal plasma contains a protein that inhibits activated protein C and that is distinct from previously described plasma protease inhibitors. Protein C inhibitory activity is not detectable in plasmas from four unrelated patients with combined Factor V/VIII deficiency but is present in normal amounts in plasmas from patients with simple factor V deficiency or Factor VIII deficiency. It is suggested that the molecular basis for combined Factor V/VIII deficiency that exhibits simple autosomal recessive inheritance is a deficiency of protein C inhibitor.
D001798:Blood Proteins / Q000172:deficiency*; D002852:Chromatography, Ion Exchange; D005166:Factor V Deficiency / Q000097:blood*; D006467:Hemophilia A / Q000097:blood*; D018046:Protein C Inhibitor
D001798:Blood Proteins; D018046:Protein C Inhibitor