How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45
UMass Chan Affiliations
Department of Pediatrics, Division of Hematology OncologyDocument Type
Journal ArticlePublication Date
2019-01-01Keywords
bone marrow transplantationinfection
myelofibrosis
severe combined neutropenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hematology
Hemic and Lymphatic Diseases
Pediatrics
Therapeutics
Metadata
Show full item recordAbstract
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.Source
Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7. Link to article on publisher's site
DOI
10.1002/pbc.27473Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43665PubMed ID
30294941Related Resources
ae974a485f413a2113503eed53cd6c53
10.1002/pbc.27473