An update on VEXAS syndrome

A Al-Hakim, S Savic - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …

Disorders of ubiquitylation: unchained inflammation

DB Beck, A Werner, DL Kastner… - Nature Reviews …, 2022 - nature.com
Ubiquitylation is an essential post-translational modification that regulates intracellular
signalling networks by triggering proteasomal substrate degradation, changing the activity of …

Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population

DB Beck, DL Bodian, V Shah, UL Mirshahi, J Kim… - Jama, 2023 - jamanetwork.com
Importance VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory,
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

MA Ferrada, S Savic, DO Cardona… - Blood, The Journal …, 2022 - ashpublications.org
Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked,
autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an …

VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

O Kosmider, C Possémé, M Templé, A Corneau… - Nature …, 2024 - nature.com
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-
onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked …

How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies

Z Boyadzhieva, N Ruffer, I Kötter, M Krusche - Rheumatology, 2023 - academic.oup.com
Objectives To evaluate the effectiveness and safety of current treatment strategies for the
vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Methods A …

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

B Stiburkova, K Pavelcova, M Belickova… - Arthritis & …, 2023 - Wiley Online Library
Objective Somatic mutations in UBA1 have recently been causally linked to a severe adult‐
onset inflammatory condition referred to as VEXAS (vacuoles, E1 enzyme, X‐linked …

Comparison of the International Consensus and 5th WHO edition classifications of adult myelodysplastic syndromes and acute myeloid leukemia

B Falini, MP Martelli - American Journal of Hematology, 2023 - Wiley Online Library
Several editions of the World Health Organization (WHO) classifications of lympho‐
hemopoietic neoplasms in 2001, 2008, and 2016 served as the international standard for …

VEXAS syndrome: clinical, hematologic features and a practical approach to diagnosis and management

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 …

Vasculitis associated with VEXAS syndrome: A literature review

R Watanabe, M Kiji, M Hashimoto - Frontiers in Medicine, 2022 - frontiersin.org
Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide
variety of organs through tissue ischemia. Vasculitis is classified according to the size (large …