Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study

Article Cardiac & Cardiovascular Systems

Thrombosis in VEXAS syndrome

Thet Mon Oo et al.

Summary: VEXAS syndrome, caused by a somatic mutation in UBA1 gene, is associated with a high thrombotic burden, particularly with venous thromboembolism (VTE) having a higher incidence compared to arterial thrombosis. Targeting endothelial dysfunction and reducing inflammation may help in preventing recurrent thrombotic events in VEXAS syndrome.

JOURNAL OF THROMBOSIS AND THROMBOLYSIS (2022)

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Article Hematology

Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X

Isabelle Luquet et al.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2022)

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Letter Rheumatology

VEXAS syndrome in a woman

Thomas Barba et al.

RHEUMATOLOGY (2021)

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Article Critical Care Medicine

Antithrombotic Therapy for VTE Disease Second Update of the CHEST Guideline and Expert Panel Report

Scott M. Stevens et al.

Summary: This is the 2nd update to the 9th edition of guidelines, providing recommendations on 17 PICO questions, with four new questions addressed. Strong and weak recommendations were generated based on high-, moderate-, and low-certainty evidence, resulting in 29 guidance statements, 13 of which are strong recommendations. New evidence has emerged since 2016, improving the standard of care for VTE patients, but substantial uncertainty remains regarding certain important management questions.

CHEST (2021)

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Letter Rheumatology

Atypical splice-site mutations causing VEXAS syndrome

Marie Temple et al.

RHEUMATOLOGY (2021)

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Letter Medicine, General & Internal

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

Jean-Benoit Arlet et al.

Summary: The authors report the occurrence of the VEXAS syndrome in two female patients, which was previously described exclusively in male patients. An 87-year-old woman presented with relapsing polychondritis, prolonged fever, and myelodysplastic syndrome.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Article Medicine, General & Internal