Publications by authors named "Asaf David Yanir"
Eur J Haematol
August 2024
Article Synopsis
- Congenital neutropenias in Israel show a diverse genetic landscape, with a focus on severe cases, particularly highlighting the prevalence of G6PC3 variants in consanguineous populations.
- A total of 65 patients were analyzed, revealing that the majority of severe cases were linked to ELANE and G6PC3 mutations, while some had other genetic variants or conditions like cyclic neutropenia or Shwachman-Diamond syndrome.
- The study emphasizes the importance of ongoing monitoring for patients due to a significant occurrence of myeloid transformation, indicating gaps in medical understanding as some patients remain without a clear genetic diagnosis.
