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Case Reports
. 2024 Jul;99(7):1400-1402.
doi: 10.1002/ajh.27320. Epub 2024 Apr 6.

Distinct bone marrow findings associated with a noncanonical UBA1 variant in VEXAS syndrome

Devin R Allison  1 , Bhagirathbhai Dholaria  2 , Ashwin Kishtagari  2 , Sanjay Mohan  2 , Eli Steigelfest  3 , Aaron C Shaver  1 , Emily F Mason  1
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Free article
Case Reports

Distinct bone marrow findings associated with a noncanonical UBA1 variant in VEXAS syndrome

Devin R Allison et al. Am J Hematol. 2024 Jul.
Free article
No abstract available

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References

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. doi:10.1056/NEJMoa2026834
    1. Patel N, Dulau‐Florea A, Calvo KR. Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome. Semin Hematol. 2021;58(4):204‐211. doi:10.1053/j.seminhematol.2021.10.007
    1. Ferrada MA, Savic S, Cardona DO, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022;140(13):1496‐1506. doi:10.1182/blood.2022016985
    1. Stiburkova B, Pavelcova K, Belickova M, et al. Novel somatic UBA1 variant in a patient with VEXAS syndrome. Arthritis Rheumatol. 2023;75(7):1285‐1290. doi:10.1002/art.42471
    1. Gurnari C, Mannion P, Pandit I, et al. UBA1 screening in sweet syndrome with hematological neoplasms reveals a novel association between VEXAS and chronic myelomonocytic leukemia. Hemaspere. 2022;6(10):e775. doi:10.1097/HS9.0000000000000775

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