Article
Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.
Leukemia - 1 Dec 2025
Sakuma Maki, Wang Amy K, Magaziner Samuel J, Keane Sachiko P, Meggendorfer Manja, Kern Wolfgang, Haferlach Claudia, Haferlach Torsten, Beck David B, Walter Wencke
Abstract excerpt
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe inflammatory and hematologic disease caused by somatic mutations in UBA1. Canonical pathogenic mutations at UBA1 p.Met41 (M41) lead to the loss of the cytoplasmic isoform (UBA1b), while non-canonical mutations outside of M41 (non-M41) result in reduced activity of both nuclear and cytoplasmic isoforms. Studies have reported...
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