Molecular and cytomorphologic diagnosis in patients with VEXAS syndrome. (A) The Sanger sequencing chromatograms for the UBA1 (NM_0033334) mutations: c.121 A>G, p.Met41Val (n = 2); c.121 A>C, p.Met41Leu (n = 1); c.122 T>C, p.Met41Thr (n = 1). (B) Characteristic vacuoles in erythroid and granulocytic precursor cells in BM from all UBA1-mutated patients (May-Grümwald-Giemsa stain). (C) Variant allele frequencies (VAFs) for putative somatic variants identified by high-throughput sequencing. Because of their location on the X chromosome, VAFs for UBA1 (black boxes) and ZRSR2 are divided by 2 to allow their representation on the same graph. UPN, unit patient number.
Figure 1.

Molecular and cytomorphologic diagnosis in patients with VEXAS syndrome. (A) The Sanger sequencing chromatograms for the UBA1 (NM_0033334) mutations: c.121 A>G, p.Met41Val (n = 2); c.121 A>C, p.Met41Leu (n = 1); c.122 T>C, p.Met41Thr (n = 1). (B) Characteristic vacuoles in erythroid and granulocytic precursor cells in BM from all UBA1-mutated patients (May-Grümwald-Giemsa stain). (C) Variant allele frequencies (VAFs) for putative somatic variants identified by high-throughput sequencing. Because of their location on the X chromosome, VAFs for UBA1 (black boxes) and ZRSR2 are divided by 2 to allow their representation on the same graph. UPN, unit patient number.

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