Severe Protein C Deficiency due to Novel Biallelic Variants in < b > < i > PROC < /i > < /b > and Their Phenotype Correlation

Severe protein C deficiency due to biallelicPROC mutations is an extremely rare thrombophilia, most commonly presenting during the neonatal period as purpura fulminans. Despite treatment, severe morbidity and mortality are frequent. The current study reports 3 unrelated patients harboring novel homozygousPROC mutations and their clinical phenotypes. We discuss how the cytoprotective activity of protein C and its role in the stabilization of endothelial barriers may account for the unique symptoms of this thrombophilia.Acta Haematol
Source: Acta Haematologica - Category: Hematology Source Type: research