Function of molecular switch pinpointed in severe congenital neutropenia

Researchers have for the first time cleared an important hurdle to clarifying the molecular mechanics behind Severe Congenital Neutropenia (SCN), a deadly disease characterized by a deficiency of neutrophils – a type of mature white blood cell important to fighting infection and disease. A research team led by Cincinnati Children’s Hospital Medical Center reports in the March 14 Immunity the first evidence of how a specific genetic mutation found in humans with SCN blocks neutrophil development in mouse bone marrow cells.