Three UBA1 clones for a unique VEXAS syndrome. - Université de Lille Accéder directement au contenu
Article Dans Une Revue Rheumatology Année : 2023

Three UBA1 clones for a unique VEXAS syndrome.

Résumé

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.
Fichier non déposé

Dates et versions

hal-04482584 , version 1 (28-02-2024)

Identifiants

Citer

Benjamin Podvin, Nathalie Cleenewerck, Olivier Nibourel, Alice Marceau-Renaut, Pauline Roynard, et al.. Three UBA1 clones for a unique VEXAS syndrome.. Rheumatology, 2023, Rheumatology, ⟨10.1093/rheumatology/kead472⟩. ⟨hal-04482584⟩
9 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Mastodon Facebook X LinkedIn More