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

Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation. Acta Haematol. 2020 Sep 25;:1-5 Authors: Barg AA, Dardik R, Levin C, Koren A, Levy-Mendelovich S, Pode-Shakked B, Kenet G Abstract Severe protein C deficiency due to biallelic PROC 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 PROC 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. PMID: 32980846 [PubMed - as supplied by publisher]
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research