Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation

Abstract

Severe protein C deficiency due to biallelic <i>PROC</i> 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 homozygous <i>PROC</i> 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.