How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45
Department of Pediatrics, Division of Hematology Oncology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Hematology | Hemic and Lymphatic Diseases | Pediatrics | Therapeutics
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to overwhelming infection and early death. This condition is exceedingly rare with only 16 patients previously reported, including four with successful hematopoietic stem cell transplantation. We review the pathophysiology underlying this condition and detail our approach to treatment, particularly vis-a-vis bone marrow transplantation and the challenges of transplanting into a diseased bone marrow niche. We provide an update on the progress of our three previously reported patients, and two additional patients transplanted at our center.
bone marrow transplantation, infection, myelofibrosis, severe combined neutropenia
DOI of Published Version
Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7. Link to article on publisher's site
Pediatric blood and cancer
Shadur, Bella; Asherie, Nathalie; Newburger, Peter E.; and Stepensky, Polina, "How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45" (2019). Pediatric Publications and Presentations. 241.