A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

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. We present a patient with SCN due to a homozygous c....

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Veröffentlicht in:	Pediatric blood & cancer 2017-09, Vol.64 (9), p.n/a
Hauptverfasser:	Shah, Rikin K., Munson, Mary, Wierenga, Klaas J., Pokala, Hanumantha R., Newburger, Peter E., Crawford, David
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone marrow Bone marrow transplantation Female Graft rejection Grafting Grafts Hematology Hematopoiesis Homozygote Humans Infant, Newborn Membrane fusion Mutation Myelofibrosis Neutropenia Neutropenia - congenital Neutropenia - genetics Oncology Pediatrics Primary Myelofibrosis - genetics primary myelofibrosis of infancy Residues severe congenital neutropenia SNAP receptors SNARE Stem cells Transplantation Vesicular Transport Proteins - genetics VPS45
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