Results 21 to 30 of about 1,455 (196)

Case Report: Diagnostic challenges in VEXAS syndrome with novel ultrastructural lung findings: IgG4-RD and vasculitis as relevant differential diagnoses [PDF]

Frontiers in Immunology
VEXAS syndrome is a rare, adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. Patients may present with symptoms similar to IgG4-related disease (IgG4-RD) or systemic vasculitis. We report the case of a 70-year-old man who
Peter Etzel, David Lang, Gregor Öberseder, Bernd Lamprecht   +3 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

VEXAS-Syndrom [PDF]

Zeitschrift für Rheumatologie, 2022
ZusammenfassungDas VEXAS-Syndrom ist eine neu identifizierte autoinflammatorische Systemerkrankung. Das Akronym VEXAS steht hier für Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. Die Erkrankung beruht auf einer erworbenen somatischen Mutation des UBA1-Gens.
M. Zeeck, I. Kötter, M. Krusche
openaire   +3 more sources

Case report: VEXAS syndrome: first documented cases in Latin America [PDF]

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +3 more sources

Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome. [PDF]

EJHaem
eJHaem, Volume 7, Issue 1, February 2026.
Suárez EU, Arquero-Portero T, Llamas-Sillero P.   +2 more
europepmc   +2 more sources

VEXAS Syndrome: An Overlooked Threat. [PDF]

Balkan Med J
Uğurlu S, Kılıç B.
europepmc   +5 more sources

Aortitis in VEXAS Syndrome. [PDF]

Intern Med
Tsuchiya J, Nunokawa T, Sogabe S, Chinen N.   +3 more
europepmc   +3 more sources

Thrombosis in VEXAS syndrome [PDF]

Journal of Thrombosis and Thrombolysis, 2021
VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed venous thromboembolism (VTE).
Thet Mon Oo, Jie Tian Jeanette Koay, Siew Fen Lee, Shang Ming Samuel Lee, Xin Rong Lim, Bingwen Eugene Fan   +5 more
openaire   +2 more sources

VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis [PDF]

, 2022
Objective: To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) from a single-center cohort of Italian patients with vasculitis, using a clinically oriented phenotype-first approach.
Balanda N., Beck D. B., Boiardi L., Bonanno O., Castrignano P., Farnetti E., Galli E., Grayson P. C., Longo R., Marvisi C., Muratore F., Nicoli D., Pipitone N., Salvarani C., Zaldini P.   +14 more
core   +1 more source

VEXAS Syndrome

Blood, 2021
VEXAS syndrome is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients present with a range of inflammatory and hematologic symptoms (Visual Abstract). Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments,
Grayson, Peter C., Patel, Bhavisha A., Young, Neal S.   +2 more
openaire   +2 more sources