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

Assaf A. Barg, Rima Dardik, Carina Levin, Ariel Koren, Sarina Levy-Mendelovich, Ben Pode-Shakked, Gili Kenet

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)327-331
Number of pages5
JournalActa Haematologica
Volume144
Issue number3
DOIs
StatePublished - May 2021

Keywords

  • Children
  • PROC mutations
  • Protein C
  • Purpura fulminans

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