Title :

Three UBA1 clones for a unique VEXAS syndrome.

Author(s) :

Podvin, Benjamin [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Cleenewerck, Nathalie [Auteur]
Centre Hospitalier de Béthune [CH Béthune]
Nibourel, Olivier [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Marceau-Renaut, Alice [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Roynard, Pauline [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Preudhomme, Claude [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Duployez, Nicolas [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Terriou, Louis [Auteur]
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Centre National de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France [CeRAINO]

Journal title :

Rheumatology

Abbreviated title :

Rheumatology (Oxford)

Publication date :

2023-09-13

ISSN :

1462-0332

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Dear Editor, The VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described autoinflammatory disease characterized by mutations in the E1 ubiquitin-activating enzyme encoded by the ...
Show more >Dear Editor, The VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described autoinflammatory disease characterized by mutations in the E1 ubiquitin-activating enzyme encoded by the UBA1 gene [1]. Clinico-biological findings include haematological abnormalities, treatment-refractory inflammatory syndrome, skin lesions, thromboembolic events, pulmonary infiltrate and chondritis [1–3]. To date, hundreds of patients have been described in the literature, with most subjects harbouring a single mutation in UBA1 [4–6]. In their first cohort, Beck et al. identified recurrent UBA1 mutations all affecting methionine 41 of exon 3 of UBA1: p. M41T (c.122T>C), p. M41V (c.121A>G) and p. M41L (c.121A>C) [1]. Since this initial description, other mutations have been reported, such as splice region mutations at exon 3 (c.118-2A>C, c.118-1G>C and C.118-9_118-2del) as well as a mutation affecting serine 56 in exon 3 (c.167C>T) [7]. The mutation of the UBA1 gene is considered to be the initiating event of VEXAS syndrome. However, the mechanisms leading to its emergence are unknown and are therefore, by default, mainly considered as a Darwinian process with random occurrence and clonal expansion in haematopoietic cells as a product of natural selection.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Submission date :

2024-02-09T22:21:44Z
2024-02-28T15:36:58Z