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]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
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]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Duployez, Nicolas [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Terriou, Louis [Auteur]
Centre National de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France [CeRAINO]
Lille Inflammation Research International Center - U 995 [LIRIC]

Journal title :

Rheumatology

Publisher :

Oxford University Press (OUP)

Publication date :

2023-09-13

ISSN :

1462-0324

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

Collections :

• Miniaturisation pour la Synthèse, l'Analyse et la Protéomique (MSAP) - USR 3290

Source :

Harvested from HAL