Genetic Diagnosis Of Vexas Syndrome: A New Rare And Deadly Autoinflammatory Disorder In Adults [PDF]
, 2023 VEXAS (Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic syndrome) syndrome is a rare autoimmune condition that can be fatal in adult persons. VEXAS syndrome is classified as an autoinflammatory disease.
Bidisha Ghosh +5 more
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International Journal of HematologyAbstract VEXAS syndrome is a recently identified, adult-onset autoinflammatory disease caused by somatic mutations in UBA1. UBA1 is an X-linked gene encoding E1 ubiquitin activating enzyme and its mutation in hematopoietic stem and progenitor cells leads to their clonal expansion and myeloid-skewed differentiation. UBA1 mutations in VEXAS are
Hideaki Nakajima, Hiroyoshi Kunimoto
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Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease. [PDF]
, 2022 Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory ...
Bonadies, Nicolas +8 more
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Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome
Frontiers in Immunology, 2022 Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS).
Haruki Matsumoto +26 more
doaj +1 more source
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
Case Reports in Hematology, 2023 VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.
Janne Austestad +5 more
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Adult-onset autoinflammation caused by somatic mutations in UBA1:A Dutch case series of patients with VEXAS [PDF]
, 2022 Background: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia,
Beck, D.B. +18 more
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Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome
Frontiers in Immunology, 2021 Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in patients with adult-onset inflammatory syndromes, often accompanied by myelodysplastic syndrome1.
Frederik Staels +23 more
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Spanish cohort of VEXAS syndrome : clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism [PDF]
, 2023 The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants.
Alvarez-Abella, Alba +51 more
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Expert Review of Clinical Immunology, 2022 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations in the UBA1 gene. The various clinical manifestations of VEXAS broadly divided into inflammatory or haematological.
Al-Hakim, A, Savic, S
openaire +3 more sources