International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(19), P. 10717 - 10717

Published: Oct. 5, 2024

A 16-year-old patient, while an infant, incurred right-sided hemiparesis and had difficulty breast feeding. She was later diagnosed with a neonatal stroke her genetic testing showed missense mutation in PROS1 (Protein S) gene. Both grandfather father, but not mother, hereditary Protein S (PS) deficiency. The patient prescribed any mediation due to young age frequently checked by physician. patient’s plasma first collected at the of 13, isolated from father were analyzed aPTT, thrombin generation, enzyme-linked immunosorbent assays. These analyses low PS activity clotting time associated During COVID-19 pandemic, received Pfizer vaccination dose 2021, followed booster 2022. samples 8 weeks post-immunization, after which parameters improved for up 6 months following vaccination. significant reduction generation aPTT time. Mass spectrometry analysis revealed that antithrombin-III level significantly higher post-vaccination, both FXII levels lowered compared father. To our knowledge, this is report document can lower risk thrombosis inherited thrombophilia. Although effect observed on single mutation, it would be interesting investigate vaccinations other

Language: Английский