Results 11 to 20 of about 2,299 (157)

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden [PDF]

Arthritis and Rheumatology
Objective Vacuoles, E1‐ubiquitin–activating enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome is a progressive systemic autoinflammatory disorder caused by somatic variants in UBA1 in blood.
David Beck, Meghan Anderson, Ashley Richardson   +2 more
exaly   +4 more sources

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis [PDF]

Genes and Diseases
Yu Tang, Hongfei Cui, Hongjun Zhao, Hui Luo, Xiaoxia Zuo, Junjiao Wu   +5 more
doaj   +4 more sources

Rapid cutaneous remission response to tofacitinib and systemic corticosteroids in VEXAS syndrome with a novel UBA1 mutation

JAAD Case Reports
Zehai Wang, BA, Hui Shi, MD, Yanyun Jiang, MD   +2 more
doaj   +4 more sources

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Orphanet Journal of Rare Diseases
Background Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations.
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu   +12 more
doaj   +3 more sources

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome

Practical Laboratory Medicine
Objectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3.
Yunqing Ma, ShianPin Hu, Rui Ni, Wei Liu, Andrew Fu, Michael Sha, Aiguo Zhang, Chuanyi M. Lu   +7 more
doaj   +5 more sources

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases

JAAD Case Reports
Alicia Mizes, MD, Mark M. Ash, MD, Christopher T. Richardson, MD, PhD   +2 more
doaj   +5 more sources

VEXAS Syndrome Presenting With Pleuritis [PDF]

Clinical Case Reports
Elderly men with pleuritis, systemic inflammation, cytopenias, and bone‐marrow vacuolization may have VEXAS due to somatic UBA1 mutations. Pulmonary involvement, including pleuritis, can be a key presentation despite the absence of classic chondritis ...
Makoto Ito, Yasushi Murakami, Michita Suzuki, Takahiko Yasuda, Norio Takagi   +4 more
doaj   +2 more sources

VEXAS: A review of current understandings and emerging treatment strategies [PDF]

Frontiers in Immunology
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a late-onset autoinflammatory disorder, typically affecting males, caused by somatic mutations in the X-linked gene UBA1 encoding the E1 ubiquitin-activating enzyme.
Robert Holden, Yogeshraj Jeelall, Yogeshraj Jeelall, Andrew McLean-Tooke, Kylan Pathmanathan, David Nolan   +5 more
doaj   +2 more sources

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement [PDF]

Frontiers in Immunology
VEXAS syndrome is a rare and severe systemic inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene, primarily affecting men. Since its initial description in 2020, it has been recognized for its complex clinical phenotype and ...
Zhongbiao Fang, Zhongbiao Fang, Tingwei Xu, Meng Zhang, Chaonan Li, Chaonan Li, Anwen Zheng, Yudan Gu, Yudan Gu, Chuhan Lan, Zongming Liu, Zongming Liu, Lingling Tang, Lingling Tang   +13 more
doaj   +2 more sources

Somatic Mutation in UBA1 and ANCA-associated Vasculitis [PDF]

The Journal of Rheumatology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was recently discovered in 25 men with late-onset severe and refractory inflammatory syndromes and associated hematologic abnormalities. Various diseases have been described, such as relapsing polychondritis, myelodysplastic syndrome, polyarteritis nodosa, and giant cell ...
Carolyn Ross, Hannah Laure Elfassy, Jean-Paul Makhzoum   +2 more
openaire   +2 more sources