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Improving Outcomes in VEXAS Syndrome: The Need for Prospective Data.
Rheumatology (Oxford)
January 2025
Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.
Ann Hematol
January 2025
Hematology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, 09121, Italy.
VEXAS syndrome is a complex hemato-inflammatory disorder, driven by somatic mutations in the UBA1 gene within hematopoietic precursor cells. It is characterized by systemic inflammation, rheumatological manifestations, and frequent association with myelodysplastic syndrome (MDS). We present a series of four VEXAS cases, all of which include concomitant MDS, each displaying distinct genetic signatures and clinical features at diagnosis, with a focus on their diagnostic and therapeutic implications.
View Article and Find Full Text PDFJAK2 is a critical therapeutic target in VEXAS syndrome treated with ruxolitinib.
Br J Haematol
January 2025
Department of Internal Medicine and Medical Specialties (DiMI), Università di Genova, Genoa, Italy.
A Clinicopathological Description of Kidney Features in VEXAS Syndrome.
Kidney Int Rep
January 2025
Néphrologie, Hôpital Tenon, Sorbonne Université, Paris, France.
A case of VEXAS syndrome with therapy refractive macular involvement.
Can J Ophthalmol
January 2025
University of Bonn, Venusberg-Campus 1, Bonn, Germany; Augenzentrum Grischun, Chur, Switzerland. Electronic address:
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