Title :

Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a two center experience.

Author(s) :

Diarra, Ava [Auteur]
Institute for Translational Research in Inflammation - U 1286 [INFINITE]
Centre National de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France [CeRAINO]
Duployez, Nicolas [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Fournier, Elise [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Preudhomme, Claude [Auteur]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Coiteux, Valérie [Auteur]
Service d'hématologie biologique [Centre Hospitalier Lyon Sud - HCL]
Magro, L. [Auteur]
Quesnel, Bruno [Auteur]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Heiblig, M. [Auteur]
Sujobert, P. [Auteur]
Barraco, F. [Auteur]
Balsat, M. [Auteur]
Scanvion, Quentin [Auteur]
Institute for Translational Research in Inflammation - U 1286 [INFINITE]
Hachulla, Eric [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Launay, David [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Yakoub-Agha, Ibrahim [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Terriou, Louis [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]

Journal title :

Blood advances

Publisher :

The American Society of Hematology

Publication date :

2021-10-30

ISSN :

2473-9529

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

The recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS syndrome display late-onset autoinflammatory symptoms, usually ...
Show more >The recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS syndrome display late-onset autoinflammatory symptoms, usually refractory to treatment, and hematologic abnormalities. The identification of an easily-accessible specific marker (UBA1 mutations) is of particular interest as it allows the convergence of various inflammatory and hematological symptoms in a unique clinico-biological entity and gives the opportunity to design specific treatment strategies. Here we retrospectively identified 6 patients with VEXAS syndrome who underwent allogeneic hematopoietic stem cell transplantation (ASCT). To date, no treatment guidelines have been validated. In 4 patients, ASCT was guided by life-threatening autoinflammatory symptoms that were refractory to multiple therapies. Three patients are in durable complete remission 32, 38, and 37 months after ASCT. Two others are in complete remission response after 3 and 5 months. One unfortunately died post-ASCT. This report suggests that ASCT could be a curative option in patients with VEXAS syndrome and severe manifestations. Considering the complications and side effects of the procedure as well as the existence of other potential treatment, clinical trials are needed to define the subgroup of patients who will benefit from this strategy and its place in the therapeutic arsenal against VEXAS syndrome.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Collections :

• Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277

Source :

Harvested from HAL