Skip to main content
Fig. 1 | BMC Rheumatology

Fig. 1

From: Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

Fig. 1

VEXAS syndrome skin lesions presented by the patient and Integrative Genome Viewer (IGV) and Sanger-sequencing electropherogram. A Edema and erythema with few subcutaneous indurated nodules in a linear, somewhat ropey pattern on right inner thigh. B Right dorsal hand is edematous and erythematous. Biopsy of the lesion showed subcutaneous panniculus with lipocyte necrosis, lipomembranous change, and clusters of neutrophils in the panniculus. C The UBA1 variant (NM_003334.3) c.121A > G: p.(Met41Val) is found in 96% of the reads in the blood. Sanger-sequencing in skin and stomach demonstrated the absence of the variant in these tissues

Back to article page