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

Bella Shadur1,2,3, Nathalie Asherie1, Peter E Newburger4

  • 1Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Pediatric Blood & Cancer
|October 9, 2018
PubMed

Insights

Mutations in the VPS45 gene cause a rare immune disorder leading to severe neutropenia and myelofibrosis. Hematopoietic stem cell transplantation offers a potential treatment, though challenges remain in diseased bone marrow environments.

Area of Science:

  • Immunology
  • Genetics
  • Hematology

Background:

  • VPS45 gene mutations result in severe primary immune deficiency.
  • This condition presents as congenital neutropenia and primary myelofibrosis.
  • The disease leads to overwhelming infections and early mortality.

Observation:

  • This rare disorder has only 16 previously reported patients.
  • Four patients achieved successful hematopoietic stem cell transplantation.
  • The study reviews pathophysiology and treatment approaches, focusing on bone marrow transplantation.

Findings:

  • Hematopoietic stem cell transplantation is a key treatment strategy.
  • Challenges exist in transplanting into a diseased bone marrow niche.
  • The study updates on five transplanted patients, including three previously reported and two new cases.

Implications:

  • Understanding VPS45 mutations is crucial for diagnosing and treating this rare immune deficiency.
  • Advances in hematopoietic stem cell transplantation may improve outcomes for affected individuals.
  • Further research into overcoming challenges in bone marrow transplantation is warranted.
Keywords:
bone marrow transplantationinfectionmyelofibrosissevere combined neutropenia

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