Results 1 to 10 of about 1,455 (196)

A patient with VEXAS syndrome presenting with complete ophthalmoplegia [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified, somatic mutation-driven, autoinflammatory syndrome primarily affecting older males.
James Krzowski, Luke Harvey, Emily Mitchell, Vivek Rajagopal   +3 more
doaj   +5 more sources

VEXAS Syndrome—Review

Global Medical Genetics, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
doaj   +3 more sources

VEXAS syndrome with cutaneous nodules

Dermatology Reports, 2021
Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj   +4 more sources

VEXAS syndrome: a diagnostic puzzle

RMD Open, 2023
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells.
Martin Krusche, Nikolas Ruffer
doaj   +3 more sources

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder [PDF]

Experimental Hematology & Oncology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in
Huijun Huang, Wenjun Zhang, Wenyu Cai, Jinqin Liu, Huijun Wang, Tiejun Qin, Zefeng Xu, Bing Li, Shiqiang Qu, Lijuan Pan, Gang Huang, Robert Peter Gale, Zhijian Xiao   +12 more
doaj   +3 more sources

VEXAS syndrome: on the threshold of changing perceptions of known diseases [PDF]

Современная ревматология, 2023
This article presents the first case of VEXAS syndrome identified in the Russian Federation as well as characteristics of currently known clinical manifestations and treatment approaches. The clinical observation described is an impressive example of how
B. D. Chaltsev, A. V. Torgashina, A. M. Lila, T. V. Markova, S. I. Kutsev, O. P. Ryzhkova, A. A. Orlova, A. V. Kokhno, T. I. Solovyova, V. N. Dvirnyk, A. M. Kovrigina, T. N. Obukhova, E. N. Parovichnikova, E. L. Nasonov   +13 more
doaj   +3 more sources

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality [PDF]

ACR Open Rheumatology
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid‐lineage progenitors ...
Laura Di Centa, Simone Longhino, Valeria Manfrè, Stefania Sacco, Luca Quartuccio   +4 more
doaj   +2 more sources

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis [PDF]

Frontiers in Immunology
VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic mutations in the UBA1 X-linked gene in hematopoietic progenitor cells.
Chiara Baggio, Chiara Baggio, Francesca Oliviero, Francesca Oliviero, Roberto Padoan, Roberto Padoan, Luca Iorio, Luca Iorio, Riccardo Bixio, Giovanni Orsolini, Eugenia Bertoldo, Eugenia Bertoldo, Cristina Bernardi, Davide Colavito, Barbara Paiero, Giovanna Pregnolato, Roberta Ramonda, Roberta Ramonda, Andrea Doria, Andrea Doria, Sara Bindoli, Sara Bindoli, Paolo Sfriso, Paolo Sfriso   +23 more
doaj   +3 more sources

The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern [PDF]

Reumatismo
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes.
C. Iannone, M.R. Pellico, C. Campochiaro, L. Tescaro, M. Zompatori, A. Caminati, S. Harari, R. Caporali   +7 more
doaj   +4 more sources

Vasculitis associated with VEXAS syndrome. [PDF]

Rheumatology (Oxford)
Abstract Objectives To define the prevalence, distribution and characteristics of patients with VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammation, somatic) syndrome who have confirmed vasculitis.
Sullivan MM, Mead-Harvey C, Sartori-Valinotti JC, Kalantari K, Kusne YN, Patnaik MM, Mangaonkar AA, Go RS, Montes D, Reichard KK, Olteanu H, Bois MC, Hines AS, Warrington KJ, Koster MJ.   +14 more
europepmc   +3 more sources