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. 2022 Apr 1;107(4):1011-1013.
doi: 10.3324/haematol.2021.280238.

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

Ryan J Stubbins  1 , Eric McGinnis  2 , Bhupinder Johal  3 , Luke Yc Chen  4 , Lorena Wilson  5 , Daniela Ospina Cardona  5 , Thomas J Nevill  6
Affiliations

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

Ryan J Stubbins et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
Representative diagnostic features of a female patient with constitutional 45,X and VEXAS syndrome (A) A diagnostic bone marrow aspirate was collected and stained with Giemsa-Wright. There is trilineage dysplasia, consistent with the known diagnosis of myelodysplastic syndrome with multilineage dysplasia. There is notable vacuolation of the erythroid and granulocytic precursors, indicated by the black arrows. (B) Karyotyping with G-banding demonstrated X monosomy, consistent with the patient’s reported history of constitutional 45,X (Turner syndrome). No clonal evolution was identified. A single X-chromosome is indicated by the black arrow. (C) Sanger sequencing for the UBA1 locus performed on peripheral blood demonstrated the presence of a somatic UBA1 p.Met41Thr mutation (c.122T>C) with approximately equal allele frequency as the reference allele, confirming the diagnosis of VEXAS syndrome; the Sanger chromatogram is demonstrated.
See this image and copyright information in PMC

References

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