Protein S deficiency.
The protein C (PC) pathway, with its cofactor protein S (PS), is an important natural antithrombotic mechanism. Patients with phenotypic PS deficiency may develop recurrent thrombosis during adulthood, with a probability of remaining free of thrombosis of about 50% at age 45. The molecular basis for hereditary PS deficiencies is highly heterogeneous, with a large spectrum of mutations that have various effects on the expression of the relevant allele.
Borgel
D
D
Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France. borgel@infobiogen.fr
Gandrille
S
S
Aiach
M
M
D000925:Anticoagulants / Q000378:metabolism; D006801:Humans; D010641:Phenotype; D011486:Protein C / Q000502:physiology; D017293:Protein S / Q000502:physiology*; D018455:Protein S Deficiency / Q000235:genetics / Q000503:physiopathology*; D013927:Thrombosis / Q000235:genetics
D000925:Anticoagulants; D011486:Protein C; D017293:Protein S