Fields · Biochemistry, Genetics and Molecular Biology · Genetics

Blood disorders and treatments

This cluster of papers focuses on the genetic basis and clinical manifestations of various neutropenia disorders, including Shwachman-Diamond syndrome, Kostmann disease, and Cohen syndrome. It explores the impact of mutations in genes such as ELANE, HAX1, GFI1, and SBDS on neutrophil development and function, as well as the implications for hematopoietic stem cell transplantation and G-CSF therapy. The research also delves into the molecular mechanisms underlying neutropenia and potential therapeutic targets.