Article
Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.
Acta haematologica - 1 Jan 2021
Barg Assaf A, Dardik Rima, Levin Carina, Koren Ariel, Levy-Mendelovich Sarina, Pode-Shakked Ben, Kenet Gili
Abstract excerpt
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...
Topics
- Fibrin Fibrinogen Degradation Products
- Fibrinogen
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Mutation
- Phenotype
- Protein C
- Protein C Deficiency
- Retrospective Studies