Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.
S Georgin-LavialleB TerrierA F GuedonM HeibligT ComontE LazaroV LacombeL TerriouS ArdoisJ-D BouazizA MathianG Le GuennoA AoubaR OuthA MeyerM Roux-SauvatM EbboL P ZhaoA BigotY JamillouxV GuillotinE FlamarionP HennetonG VialV JachietJ RossignolS VinzioT WeittenJ VinitC DelignyS HumbertM SamsonN Magy-BertrandT MoulinetR BourguibaT HanslikC BachmeyerM SebertM KostineB BienvenuP BiscayE LiozonL SaillerF ChassetA Audemard-VergerE DuroyonG SarrabayF BorlotC DievalT CluzeauP MarianettiH LobbesG BoursierM Gerfaud-ValentinJ JeannelA ServettazS AudiaM LarueB HenriotB FaucherJ GraveleauB de Sainte MarieJ GallandL BouilletC ArnaudL AdesF CarratP HirschP FenauxO FainP SujobertO KosmiderArsenne Mekiniannull nullnull nullPublished in: The British journal of dermatology (2021)
VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation.