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Updated: Jun 14, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
06:39

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome

Published on: October 3, 2018

Myelodysplastic Syndromes in VEXAS.

Bhavisha A Patel1, Katherine R Calvo2, Kaaren K Reichard3

  • 1National Institute of Health, Bethesda, Maryland, United States.

Blood Advances
|June 12, 2026
PubMed
Summary
This summary is machine-generated.

VEXAS syndrome, a clonal disorder from UBA1 mutations, causes inflammation and bone marrow failure. VEXAS-associated myelodysplastic syndromes present unique features and prognostic implications.

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Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation
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Last Updated: Jun 14, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
06:39

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome

Published on: October 3, 2018

Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation
12:05

Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation

Published on: November 3, 2018

Area of Science:

  • Hematology
  • Genetics
  • Immunology

Background:

  • VEXAS syndrome is a clonal hemato-inflammatory disorder affecting older males.
  • It stems from somatic UBA1 gene mutations, crucial for ubiquitination.
  • This leads to endoplasmic reticulum stress and systemic inflammation.

Purpose of the Study:

  • To review the distinct myelodysplastic syndromes (MDS) features in VEXAS syndrome.
  • To summarize hematopoietic system defects and clinical findings.
  • To discuss treatment strategies for VEXAS-associated MDS.

Main Methods:

  • Literature review of VEXAS syndrome and MDS.
  • Analysis of hematopoietic defects and peripheral blood/bone marrow findings.
  • Examination of histological and molecular characteristics.

Main Results:

  • UBA1 mutations cause loss of UBA1b isoform, protein misfolding, and ER stress.
  • 30-50% of VEXAS patients develop MDS, unlike 1% of unselected MDS patients.
  • VEXAS-associated MDS has unique clinical, laboratory, and morphological features.

Conclusions:

  • VEXAS-associated MDS is a challenging diagnosis with distinct characteristics.
  • Understanding these features is crucial for accurate diagnosis and prognosis.
  • Further research into treatment strategies, including hypomethylating agents, is warranted.