Title

How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45

UMMS Affiliation

Department of Pediatrics, Division of Hematology Oncology

Publication Date

2019-1

Document Type

Article

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Hematology | Hemic and Lymphatic Diseases | Pediatrics | Therapeutics

Abstract

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.

Keywords

bone marrow transplantation, infection, myelofibrosis, severe combined neutropenia

DOI of Published Version

10.1002/pbc.27473

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

Journal/Book/Conference Title

Pediatric blood and cancer

Related Resources

Link to Article in PubMed

PubMed ID

30294941

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