{Reference Type}: Case Reports
{Title}: VEXAS syndrome: A new mimicker of idiopathic multicentric Castleman disease.
{Author}: Philip R;Cadro V;Aouba A;Chantepie S;Bracquemart C;Dumont A;
{Journal}: Joint Bone Spine
{Volume}: 91
{Issue}: 4
{Year}: 2024 Jul 5
{Factor}: 5.263
{DOI}: 10.1016/j.jbspin.2024.105731
{Abstract}: <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.