Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome

N Patel, A Dulau-Florea, KR Calvo - Seminars in Hematology, 2021 - Elsevier
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly
characterized syndrome with underlying somatic UBA1 mutations in myeloid cells linking …

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 …

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 …

Thrombotic manifestations of VEXAS syndrome

EM Groarke, AE Dulau-Florea, Y Kanthi - Seminars in Hematology, 2021 - Elsevier
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a
recently described autoinflammatory syndrome characterized by diffuse inflammatory …

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 case of VEXAS syndrome complicated by hemophagocytic lymphohistiocytosis

A Grey, PL Cheong, FJ Lee, E Abadir… - Journal of Clinical …, 2021 - Springer
VEXAS syndrome is a recently described entity in which an X-linked somatic mutation in
UBA1 causes widespread inflammatory manifestations in older men, typically accompanied …

Genetics of somatic auto-inflammatory disorders

JA Poulter, S Savic - Seminars in Hematology, 2021 - Elsevier
Systemic autoinflammatory disorders (SAIDs) encompass a heterogeneous group of
monogenic disorders characterized by recurrent episodes of systemic and organ-specific …

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

F Shaukat, M Hart, T Burns… - Modern Rheumatology …, 2022 - academic.oup.com
Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently
described X-linked autoinflammatory condition associated with somatic mutation of the …

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings

AS Hines, NA Mohandesi, JS Lehman… - International journal …, 2023 - Wiley Online Library
Background VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome
is an autoinflammatory disease with frequent cutaneous manifestations. Methods We …

VEXAS within the spectrum of rheumatologic disease

MJ Koster, KJ Warrington - Seminars in Hematology, 2021 - Elsevier
The identification of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
syndrome as a myeloid-driven inflammatory disease resulting from somatic mutations in the …