R Kanagal-Shamanna, DB Beck… - Annual Review of …, 2024 - annualreviews.org
Somatic or acquired mutations are postzygotic genetic variations that can occur within any tissue. These mutations accumulate during aging and have classically been linked to …
MJ Koster, TL Lasho, H Olteanu… - American journal of …, 2024 - Wiley Online Library
Abstract VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a newly identified disease caused by somatic alterations in UBA1 which produce a recalcitrant …
MC Moura, M Baqir, YK Tandon, MJ Samec… - Respiratory …, 2023 - Elsevier
Abstract Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the …
C Gurnari, MR Pascale, A Vitale, E Diral… - American Journal of …, 2024 - Wiley Online Library
VEXAS is a prototypic hemato‐inflammatory disease combining rheumatologic and hematologic disorders in a molecularly defined nosological entity. In this nationwide study …
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel entity manifesting with a multiplicity of clinical features. Somatic mutations of the UBA1 gene in …
M Heiblig, B Patel, Y Jamilloux - Best Practice & Research Clinical …, 2023 - Elsevier
The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which …
C Gurnari, L Koster, L Baaij, M Heiblig… - Blood …, 2024 - ashpublications.org
Somatic mutations of the X-linked UBA1 gene in myeloid progenitors constitute the molecular underpinnings of VEXAS, typically occurring in men during the sixth decade of …
LT Nicholson, EW Cowen, D Beck, M Ferrada… - JID Innovations, 2024 - Elsevier
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome is a newly recognized, acquired autoinflammatory disorder with broad systemic implications and a poor global …
R Mishra, C Calabrese, AG Jain, A Singh - Leukemia Research, 2024 - Elsevier
Approximately one-third of patients with myeloid disorders like myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) exhibit inflammatory and autoimmune …