Results 131 to 140 of about 4,126 (198)

VEXAS Syndrome: A Comprehensive Review of Clinical Mimickers and Differential Diagnosis at the Rheumatology–Haematology Interface

Journal of Education, Health and Sport
VEXAS syndrome is a newly described autoimmune disorder in adults caused by a somatic mutation in the UBA1 gene located on the X chromosome, occurring almost exclusively in older men.
Hanna Aleksandrowicz, Zuzanna Kalinowska, Julia Sokołowska , Karolina Karska, Katarzyna Grunwald, Marcel Dawidowicz   +5 more
doaj   +1 more source

A case of VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome presenting as progressive multisystem involvement with parenchymal infiltrates following infection with Epstein Barr virus

Respirology Case Reports
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, and somatic) syndrome is a rare multisystem disease affecting predominantly males over 50 and manifesting as widespread progressive inflammatory sequelae and haematological dysfunction.
Jelena Solujic, Phan Nguyen, Peter Bardy, Yao Ly, Emily Lawton   +4 more
doaj   +1 more source

Additional file 5 of Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Additional file 5.Clinical features of patients with RP who had UBA1 p.Met41 variants.
Duan, Suying, Luo, Haiyang, Wang, Yunchao, Jiang, Dongbin, Liu, Jiajia, Li, Jiaqi, Zheng, Honglin, Zhao, Taiqi, Liu, Chenyang, Zhang, Hang, Mao, Chengyuan, Zhang, Lei, Xu, Yuming   +12 more
openaire   +1 more source

A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report

Journal of Medical Case Reports
Introduction VEXAS syndrome, characterized by a UBA1 gene mutation, is a rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for its broad clinical phenotype and frequent ...
Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel, Doreen Kroppen, Sarah B. Stanzel, Daniel S. Majorski, Kathrin Fricke, Ilka Plath, Wolfram Windisch, Maximilian Zimmermann   +9 more
doaj   +1 more source

PO:22:033 | Unraveling VEXAS syndrome: when skin manifestations and monoclonal gammopathy precede hematological myeloid alterations

Reumatismo
Background. VEXAS (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) syndrome is a rare adult disease caused by somatic mutations in the UBA1 gene within hematopoietic stem cells (1). These mutations compromise the ubiquitin-activating E1 enzyme
Società Italiana di Reumatologia
doaj  

A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report. [PDF]

Am J Case Rep
Shahverdi E, Mundmann P, Pohlkamp C, Dirare S, Hussein Mohamed I, Semerci H, Petz C.   +6 more
europepmc   +1 more source

Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome. [PDF]

Nature
Narendra VK, Das T, Wierciszewski LJ, Londoner RJ, Morrison JK, Martindale P, Devine T, Chen K, Trombetta M, Kanno Y, Casiano AE, de Stanchina E, Lareau CA, Lowe SW, Gitlin AD.   +14 more
europepmc   +1 more source

6-OHDA-Induced Changes in Parkinson`s Disease-Related Gene Expression are not Affected by the Overexpression of PGAM5 in In Vitro Differentiated Embryonic Mesencephalic Cells [PDF]

, 2015

core   +1 more source

Mechanism and regulation of dUTPase nucleocytoplasmic transport with an outlook on cell cycle dependent nuclear proteome reconstruction [PDF]

, 2015
Róna, Gergely
core   +1 more source

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management. [PDF]

Curr Opin Rheumatol
Fiumara M, Campochiaro C, Molteni R.
europepmc   +1 more source