Novel mutations in UBA1 leading to a wide sprectum of inflammatory diseases
Very excited about this work, from a wonderful collaboration with MLL and Maki Sakuma and Wencke Walter!
Sakuma M, Wang AK, Magaziner SJ, Keane SP, Meggendorfer M, Kern W, Haferlach C, Haferlach T, Beck DB, Walter W. Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations. Leukemia. 2025 Dec;39(12):2872-2880. doi: 10.1038/s41375-025-02775-4. Epub 2025 Oct 9. PMID: 41068485; PMCID: PMC12634433.
