VEXAS syndrome

PC Grayson, BA Patel, NS Young - Blood, The Journal of the …, 2021 - ashpublications.org
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …

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 …

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 …

Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients

S Georgin‐Lavialle, B Terrier… - British Journal of …, 2022 - academic.oup.com
Background A new autoinflammatory syndrome related to somatic mutations of UBA1 was
recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X‐linked …

Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study

M Heiblig, MA Ferrada, MT Koster… - Blood, The Journal …, 2022 - ashpublications.org
VEXAS syndrome (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X-
linked, autoinflammatory manifestations and somatic) is an autoinflammatory condition …

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1

IE Obiorah, BA Patel, EM Groarke, W Wang… - Blood …, 2021 - ashpublications.org
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been
reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked …

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 …

Spectrum of clonal hematopoiesis in VEXAS syndrome

F Gutierrez-Rodrigues, Y Kusne… - Blood, The Journal …, 2023 - ashpublications.org
Abstract Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …

Adult-onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of patients with VEXAS

CI van der Made, J Potjewijd, A Hoogstins… - Journal of Allergy and …, 2022 - Elsevier
Background A novel autoinflammatory syndrome was recently described in male patients
who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were …

Azacitidine for patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French …

T Comont, M Heiblig, E Rivière… - British journal of …, 2022 - Wiley Online Library
Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with
inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory …