Ann Lab Med.  2023 Mar;43(2):217-220. 10.3343/alm.2023.43.2.217.

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

• Yoon JG
• Lee S
• Kim S
• Kim MJ
• Chang YH
• Park JK
• Shin DY
• Moon J

• KMID: 2551703
• DOI: http://doi.org/10.3343/alm.2023.43.2.217

Figure

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  Fig. 1 Histological and molecular findings in the present case of VEXAS syndrome. (A) Skin manifestation of multiple nodular regions in the upper extremities. Skin biopsy findings indicating superficial and deep perivascular lymphohistiocytic infiltration with abundant neutrophils (hematoxylin and eosin stain, ×400). (B) BM aspirate smear findings showing hemophagocytic histiocytes (red arrow) and mild dysplastic features and typical multiple vacuoles (black arrow) in myeloid precursors (Wright–Giemsa stain, ×1,000). (C) Exome sequencing revealed no pathogenic germline variants; however, somatic variants in UBA1 (NM_153280.3: c.121A>C, p.Met41Leu) with a variant allele frequency of 48.8% were detected and confirmed using Sanger sequencing. Abbreviations: VEXAS, vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic; BM, bone marrow.

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