Methodology and clinical utility of longitudinal <scp><i>UBA1</i></scp> tracking in <scp>VEXAS</scp> syndrome
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy. Here, we validated a method to quantify UBA1 clonal burden and explored its applicability in patients with VEXAS. Given the different treatment interactions, droplet digital polymerase chain reaction (ddPCR) may allow for informed therapeutic decisions and implementation of personalized strategies.
Authors
- Monica Bocchia (ORCID: https://orcid.org/0000-0003-3538-3913)
- S Plebani
- Gregorio Maria Bergonzi (ORCID: https://orcid.org/0009-0007-1339-2663)
- Christian Thiede (ORCID: https://orcid.org/0000-0003-1241-2048)
- Federica Pilo (ORCID: https://orcid.org/0000-0002-3326-0429)
- Orietta Spinelli (ORCID: https://orcid.org/0000-0003-0374-1536)
- Raffaella Greco (ORCID: https://orcid.org/0000-0002-6117-5328)
- Antonio Vitale (ORCID: https://orcid.org/0000-0003-4469-7332)
- Elisa Diral (ORCID: https://orcid.org/0000-0002-4994-7719)
- Fabio Ciceri (ORCID: https://orcid.org/0000-0003-0873-0123)
- Giorgia Battipaglia (ORCID: https://orcid.org/0000-0002-0695-3879)
- Lorenzo Dagna (ORCID: https://orcid.org/0000-0002-7428-315X)
- Elena Crisà (ORCID: https://orcid.org/0000-0003-1912-0574)
- Alessandro Tomelleri (ORCID: https://orcid.org/0000-0002-5440-2078)
- Corrado Campochiaro (ORCID: https://orcid.org/0000-0001-6806-3794)
- Federico Caroni (ORCID: https://orcid.org/0000-0002-7071-2391)
- Alfonso Piciocchi (ORCID: https://orcid.org/0000-0001-8648-885X)
- Cristina Papayannidis (ORCID: https://orcid.org/0000-0001-8705-8333)
- Marco Frigeni (ORCID: https://orcid.org/0000-0003-2493-7749)
- Elisa Galossi
- Luca Cantarini (ORCID: https://orcid.org/0000-0002-7352-1275)
- Mariadomenica Divona
- Fabrizio Pane (ORCID: https://orcid.org/0000-0003-2563-4125)
- Davide Firinu (ORCID: https://orcid.org/0000-0002-5768-391X)
- Carmelo Gurnari (ORCID: https://orcid.org/0000-0001-6829-5544)
- Maria Teresa Voso (ORCID: https://orcid.org/0000-0002-6164-4761)
- Chiara Cardamone (ORCID: https://orcid.org/0000-0002-5713-3993)
- Antonio D’Ambrosio (ORCID: https://orcid.org/0000-0002-1905-037X)
- Arianna Savi
- Katja Sockel (ORCID: https://orcid.org/0000-0003-1732-7299)
- Matteo Dragani (ORCID: https://orcid.org/0000-0002-5754-4856)
- Giulia Rivoli (ORCID: https://orcid.org/0009-0003-8709-2525)
- Erika Morsia (ORCID: https://orcid.org/0000-0003-4453-6985)
- Paola Triggianese
- Francesca Romano (ORCID: https://orcid.org/0000-0001-5651-157X)
- Francesco D’Agostino (ORCID: https://orcid.org/0000-0003-0450-2844)
- Annalisa Condorelli (ORCID: https://orcid.org/0000-0002-6940-333X)
- Silvia Salmoiraghi (ORCID: https://orcid.org/0000-0001-9274-0177)
- Eleonora Lumia
- Elisa Casciani
Institutions
- University of Siena (IT)
- University of Rome Tor Vergata (IT)
- Cleveland Clinic (US)
- University of Salerno (IT)
- Vita-Salute San Raffaele University (IT)
- University of Cagliari (IT)
- Casa Sollievo della Sofferenza (IT)
- San Salvatore Hospital (IT)
- Ospedale Papa Giovanni XXIII (IT)
- Ospedali Riuniti di Ancona (IT)
- Fondazione Gimema Onlus (IT)
- Federico II University Hospital (IT)
- Istituto di Ematologia di Bologna (IT)
- IRCCS Ospedale San Raffaele (IT)
- Azienda Ospedaliera Universitaria Senese (IT)
- Ospedale Policlinico San Martino (IT)
- Candiolo Cancer Institute (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Turin (IT)
- Technische Universität Dresden (DE)
Publication Details
- Journal
- British Journal of Haematology
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1111/bjh.19897
- Citations
- 10
- Primary Topic
- Otitis Media and Relapsing Polychondritis
- Type
- article
- Field-Weighted Citation Impact
- 4.70
Funders
- Edward P. Evans Foundation