VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis.
CD34+ cells isolated from patients with PV, idiopathic myelofibrosis (IM), or granulocyte colony-stimulating factor-mobilized normal donors were transplanted into sublethally irradiated NOD/SCID mice.
Culture for 72 h with G-CSF or GM-CSF disclosed a minor abnormal clone which was undetected in 24 and 48 h cultures in a patient with myelofibrosis with myeloid metaplasia.