Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 May 13;207(1):273-277.
doi: 10.1111/bjh.20157. Online ahead of print.

Erythroid-stimulating agents in VEXAS syndrome: A retrospective study from an Italian multicentre cohort

E Diral  1 , C Campochiaro  2   3 , G Furnari  1   3 , F Moretti  4 , J Ferrari  5   6 , C Elena  6 , G Battipaglia  7 , S Barbato  7 , A Vitale  8 , M Frigeni  9 , F Crisafulli  10   11 , M Frassi  10   11 , C Papayannidis  12 , A D Romagnoli  12   13 , C Cattaneo  14 , A D'Ambrosio  15 , E Morsia  16 , P Musto  17 , G Rivoli  18 , M E Dragani  18 , C Toffalori  19 , G M Bergonzi  1   3 , G Scorpio  1   3 , A Tomelleri  2   3 , M T Voso  4 , C Gurnari  4   20 , L Vago  1   3   19 , L Dagna  2   3 , F Ciceri  1   3
Affiliations

Erythroid-stimulating agents in VEXAS syndrome: A retrospective study from an Italian multicentre cohort

E Diral et al. Br J Haematol. .
No abstract available

Keywords: VEXAS; erythropoietin; macrocytic anaemia; myelodysplastic neoplasms.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing financial interests.

Figures

FIGURE 1
FIGURE 1
Haematological characteristics at baseline and variation in UBA1 clone size. (A) Association between UBA1 mutation type, recurrent mutations in myeloid malignancies and haematological conditions in cytopenic VEXAS patients. (B) Haematological conditions associated with VEXAS: Idiopathic cytopenia of undetermined significance (ICUS); clonal cytopenia of undetermined significance (CCUS); myelodysplastic syndrome (MDS). (C) MDS classification according to the WHO 2022—MDS with low blasts and SF3B1 mutation (MDS‐SF3B1); MDS with biallelic TP53 inactivation (MDS‐biTP53); MDS with low blasts and isolated 5q deletion (MDS‐5q); MDS with low blasts (MDS‐LB); not available (N/A). (D) MDS risk score according to IPSS‐R and IPSS‐M. (E) Transfusion burden at baseline: Non‐transfusion dependent (NTD), low transfusion (LBT) and high transfusion burden (HTB). (F) Concomitant treatment before ESA treatment: JAK inhibitors (JAK‐i), methotrexate (MTX), ciclosporin A (CSA). (G) UBA1 clone size variation during ESA treatment: VAF (variant allele frequency).
See this image and copyright information in PMC

References

    1. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult‐onset autoinflammatory disease. New Engl J Med. 2020;383(27):2628–2638. 10.1056/NEJMoa2026834 - DOI - PMC - PubMed
    1. Diral E, Campochiaro C, Tomelleri A, Bergonzi GM, Pizzano U, Ponzoni M, et al. Case report: Cytopenias in VEXAS syndrome ‐ a WHO 2022 based approach in a single‐centre cohort. Front Immunol. 2024;15:1354130. 10.3389/fimmu.2024.1354130 - DOI - PMC - PubMed
    1. Georgin‐Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2021;186(3):564–574. 10.1111/bjd.20805 - DOI - PubMed
    1. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703–1719. 10.1038/s41375-022-01613-1 - DOI - PMC - PubMed
    1. Platzbecker U, Fenaux P, Adès L, Giagounidis A, Santini V, van de Loosdrecht AA, et al. Proposals for revised IWG 2018 haematological response criteria in patients with MDS included in clinical trials. Blood. 2019;133(10):1020–1030. 10.1182/blood-2018-06-857102 - DOI - PMC - PubMed

LinkOut - more resources