%0 Case Reports
%T VEXAS syndrome: A new mimicker of idiopathic multicentric Castleman disease.
%A Philip R
%A Cadro V
%A Aouba A
%A Chantepie S
%A Bracquemart C
%A Dumont A
%J Joint Bone Spine
%V 91
%N 4
%D 2024 Jul 5
%M 38583690
%F 5.263
%R 10.1016/j.jbspin.2024.105731
%X <B>BACKGROUND: </B>Idiopathic Multicentric Castleman Disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities.<BR><B>METHODS: </B>We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node.<BR><B>CONCLUSIONS: </B>This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology.