Case Study: VEXAS Syndrome

vexas disease- Bone Marrow Aspirate NEJM


VEXAS syndrome is a disease with inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene affecting the Met41 residue of the protein and resulting in decreased cellular ubiquitylation activity and hyperinflammation. This is an adults-onset fatal disease that may present as myelodysplastic syndrome, aplastic anemia or multiple myeloma, but characterized by fevers, low white cell count, vacuoles in bone marrow cells, dysplastic bone marrow, pulmonary inflammation, chondritis, and vasculitis. Detecting UAB1 gene mutations in the is the only way for confirming the diagnosis of this disease.

Clinical History

68-year-old male
With low-grade myelodysplastic syndrome and inflammatory manifestations including arthritis, chondritis or other autoimmune disorders
Molecular Profiling Findings
Mutations in UBA1, DNMT3A, and TET2 genes


The presence of DNMT3A, and TET2 suggest early low-grade myelodysplastic syndrome (MDS). And the detection of UBA1 mutation along with the patient’s symptoms confirmed the diagnosis of VEXAS. This patient was undiagnosed for long period of time and became transfusion dependent. By using any of our hematology DNA, DNA+RNA or cfDNA NGS panels; we are able to accurately diagnose VEXAS syndrome. This patient and most of the patients who are currently diagnosed with VEXAS have had numerous tests and tried multiple treatments. VEXAS should be considered in patients with systemic autoinflammatory disorders as well as patients with clinical presentation of myelodysplastic syndrome.

Download PDF (VEXAS case study brochure)


  1. David B. Beck, M.D., et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease N Engl J Med 2020; 383:2628-2638, DOI: 10.1056/NEJMoa2026834
  2. James A. Poulter, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood (2021) 137 (26): 3676–3681.
  3. Marcela A. Ferrada, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS, Arithritis & Rheumatology,


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