VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) for the dermatologist

D Sterling, ME Duncan, M Philippidou… - Journal of the American …, 2023 - Elsevier
In 2020, Beck et al 1 described a novel adult autoinflammatory syndrome entitled VEXAS
(Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic), a newly-discovered disorder …

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases

A Vitale, V Caggiano, A Bimonte, F Caroni… - Internal and Emergency …, 2023 - Springer
Abstract VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a
recently described pathological entity. It is an acquired monogenic autoinflammatory …

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Z Wu, S Gao, Q Gao, BA Patel, EM Groarke, X Feng… - Cell Reports …, 2023 - cell.com
Summary VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …

Update on VEXAS and role of allogeneic bone marrow transplant: considerations on behalf of the Chronic Malignancies Working Party of the EBMT

C Gurnari, DP McLornan - Bone Marrow Transplantation, 2022 - nature.com
VEXAS (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a
fascinating new entity encompassing a variety of clinical manifestations, spanning from auto …

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

K Kouranloo, A Ashley, SS Zhao, M Dey - Rheumatology International, 2023 - Springer
Background VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome
is a newly described auto-inflammatory disease. Many cases feature pulmonary infiltrates or …

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts

J Poulter - Journal of Clinical Immunology, 2022 - Springer
To the Editor Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1,
cause VEXAS (Vacuoles, E1-ligase, X-linked, Auto-inflammatory, Somatic), a late-onset …

VEXAS syndrome: lessons learnt from an early Australian case series

S Islam, T Cullen, D Sumpton… - Internal Medicine …, 2022 - Wiley Online Library
VEXAS is a newly recognised adult‐onset autoinflammatory syndrome resulting from a
somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in …

Case report: genetic double strike: VEXAS and TET2-positive myelodysplastic syndrome in a patient with long-standing refractory autoinflammatory disease

F Lötscher, L Seitz, H Simeunovic, AC Sarbu… - Frontiers in …, 2022 - frontiersin.org
Somatic genetic mutations involving the innate and inflammasome signaling are key drivers
of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who …

Genetic approaches to study rheumatic diseases and its implications in clinical practice

D Rowczenio, I Aksentijevich - Arthritis & Rheumatology, 2024 - Wiley Online Library
Patients with rare and complex rheumatic diseases (RDs) present with immense clinical
variability inherent to all immunologic diseases. In addition to systemic and organ‐specific …

A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis

RL Kao, AA Jacobsen, CJ Billington Jr, SL Yohe… - Blood Cells, Molecules …, 2022 - Elsevier
Abstract Vacuoles, E1, X-linked, autoimmunity, somatic (VEXAS) syndrome is characterized
by a pathogenic mutation in UBA1, which leads to protean complications including …