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

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.

Type Journal
ISBN 1545-5017 (Electronic) 1545-5009 (Linking)
Authors Shadur, B.; Asherie, N.; Newburger, P. E.; Stepensky, P.
Publisher Name PEDIATRIC BLOOD & CANCER
Published Date 2019-01-01
Published Volume 66
Published Issue 1
Published Pages e27473
Status Published in-print
DOI 10.1002/pbc.27473
URL link to publisher's version http://www.ncbi.nlm.nih.gov/pubmed/30294941