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Review
. 2021 Jul 1;137(26):3591-3594.
doi: 10.1182/blood.2021011455.

VEXAS syndrome

Peter C Grayson  1 , Bhavisha A Patel  1 , Neal S Young  1
Affiliations
Review

VEXAS syndrome

Peter C Grayson et al. Blood. .

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.

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Figures

None
Graphical abstract
Figure 1.
Figure 1.
18F-fluorodeoxyglucose positron emission tomography in a patient with VEXAS syndrome demonstrating hypermetabolic activity in bone marrow (yellow). Somatic mutations in UBA1 in hematopoietic cells lead to myeloid-driven inflammation that is often refractory to treatment in patients with VEXAS syndrome.
See this image and copyright information in PMC

References

    1. Beck DB, Ferrada MA, Sikora KA, et al. . Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628-2638. - PMC - PubMed
    1. Kleiger G, Mayor T.. Perilous journey: a tour of the ubiquitin-proteasome system. Trends Cell Biol. 2014;24(6):352-359. - PMC - PubMed
    1. Levy-Lahad E, King MC.. Hiding in plain sight: somatic mutation in human disease. N Engl J Med. 2020;383(27):2680-2682. - PubMed
    1. Mekinian A, Grignano E, Braun T, et al. . Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study. Rheumatology (Oxford). 2016;55(2):291-300. - PubMed
    1. Lee SJ, Park JK, Lee EY, et al. . Certain autoimmune manifestations are associated with distinctive karyotypes and outcomes in patients with myelodysplastic syndrome: a retrospective cohort study. Medicine (Baltimore). 2016;95(13):e3091. - PMC - PubMed

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