VEXAS Syndrome

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2021 May 10

PMID 33971000

Citations 73

Authors

Peter C Grayson

Bhavisha A Patel

Neal S Young

Affiliations

Soon will be listed here.

Abstract

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of diseases.

Citing Articles

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome: A Case Report.

Zaidi M, West F, Ellis Z, Yates R, Davis H Cureus. 2025; 17(2):e78373.

PMID: 40041629 PMC: 11879632. DOI: 10.7759/cureus.78373.

Sterile osteomyelitis: a cardinal sign of autoinflammation.

Borges T, Santos J, Silva S Reumatologia. 2025; 62(6):475-488.

PMID: 39866303 PMC: 11758105. DOI: 10.5114/reum/196595.

Concurrent inhibited erythropoiesis in a case of VEXAS syndrome.

Xing L, Liang W, Li Y, Xiao J, Li Z, Zhang F Ann Hematol. 2024; .

PMID: 39613900 DOI: 10.1007/s00277-024-06107-x.

Case report: VEXAS syndrome with excellent response to treatment with azacitidine.

Porges T, Rosenberg E, Wolach O, Sagy I, Sherf Y, Levi I Ann Hematol. 2024; 103(12):5935-5939.

PMID: 39549055 DOI: 10.1007/s00277-024-06072-5.

[Erythema nodosum].

Weber V, Weimann K, Kolm I, Meier-Schiesser B Dermatologie (Heidelb). 2024; 76(1):40-48.

PMID: 39514018 PMC: 11711137. DOI: 10.1007/s00105-024-05429-1.

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