VEXAS syndrome
VEXAS syndrome is an acquired adult-onset autoinflammatory disease caused by a somatic mutation of the UBA1 gene in bone marrow cells. It combines systemic inflammation with haematological involvement.
What it is
First described in 2020, VEXAS syndrome affects mostly men over fifty. It combines, to varying degrees, fever, skin lesions, chondritis, lung involvement, thrombosis and cytopenias, frequently with an associated myelodysplastic syndrome. Diagnosis rests on demonstrating the somatic UBA1 mutation.
His work on this subject
Arsène Mekinian is first author of the American College of Rheumatology guidance statement for the diagnosis and management of VEXAS syndrome, published in Arthritis & Rheumatology in March 2026, and coordinator of the international group that produced it. He is co-founder and coordinator of FRENVEX, the French VEXAS study group, created in 2020, and coordinates the immuno-haematology and VEXAS group at Institut Imagine.
Where care is organised
Department of Internal Medicine and Clinical Immunology, Saint-Antoine Hospital (AP-HP), a constitutive site of the CeRéMAIA reference centre, in liaison with haematology and the FRENVEX network.
What is not known
No treatment holds a marketing authorisation for this indication. The American College of Rheumatology text is a guidance statement based on expert consensus, not on randomised trials. The role of allogeneic stem cell transplantation and of JAK inhibitors remains under evaluation.