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dc.contributor.authorShadur, Bella
dc.contributor.authorAsherie, Nathalie
dc.contributor.authorNewburger, Peter E.
dc.contributor.authorStepensky, Polina
dc.date2022-08-11T08:10:13.000
dc.date.accessioned2022-08-23T16:59:47Z
dc.date.available2022-08-23T16:59:47Z
dc.date.issued2019-01-01
dc.date.submitted2018-12-21
dc.identifier.citation<p>Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7. <a href="https://doi.org/10.1002/pbc.27473">Link to article on publisher's site</a></p>
dc.identifier.issn1545-5009 (Linking)
dc.identifier.doi10.1002/pbc.27473
dc.identifier.pmid30294941
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43665
dc.description.abstractMutations 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.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=30294941&dopt=Abstract">Link to Article in PubMed</a></p>
dc.relation.urlhttps://doi.org/10.1002/pbc.27473
dc.subjectbone marrow transplantation
dc.subjectinfection
dc.subjectmyelofibrosis
dc.subjectsevere combined neutropenia
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectHematology
dc.subjectHemic and Lymphatic Diseases
dc.subjectPediatrics
dc.subjectTherapeutics
dc.titleHow we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45
dc.typeJournal Article
dc.source.journaltitlePediatric blood and cancer
dc.source.volume66
dc.source.issue1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_pp/241
dc.identifier.contextkey13525458
html.description.abstract<p>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.</p>
dc.identifier.submissionpathpeds_pp/241
dc.contributor.departmentDepartment of Pediatrics, Division of Hematology Oncology
dc.source.pagese27473


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