Results 91 to 100 of about 1,455 (196)
Respirology Case ReportsVEXAS (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 +4 more
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Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching [PDF]
, 2023 INTRODUCTION: Accurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic ...
Aeschlimann, Florence +20 more
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Examining Rare Instances of Vexas Syndrome in Females [PDF]
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset inflammatory condition. Initially thought to only affect males with a specific myeloid-lineage UBA1 somatic mutation, it was hypothesized that females with the ...
Crocker, Kelsey, Nasho, Emily
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VEXAS gene variants explain previously unrecognized clinical syndrome [PDF]
, 2022 This review aims to make clinicians aware of the newly described syndrome, VEXAS. VEXAS should become an obvious differential diagnosis in cases of unexplained inflammation, anemia, and rheumatological and/or hematological manifestations.
Hauge, Ellen-Margrethe +5 more
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VEXAS syndrome as a cause of debilitating fatigue and intermittent fever [PDF]
, 2023 VEXAS (vakuoler, E1-enzym, genvariant på X-kromosomet, utoinflammation, somatisk)-syndrom er et autoinflammatorisk syndrom først beskrevet i 2020. VEXAS-syndrom skyldes en genvariation med dysfunktion i ubiquitin-like modifier activating enzyme 1-genet ...
Al-Mashhadi, Ahmed Ludvigsen +3 more
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Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study [PDF]
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described autoinflammatory disorder with little therapeutic evidence. We compared treatment outcomes of targeted therapies versus prednisolone alone in the
Ahmed S +20 more
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Think VEXAS: a case report of Vexas syndrome
Journal of Rare DiseasesAbstractVEXAS syndrome is a rare auto-inflammatory disorder characterized by heterogeneous inflammatory and hematologic features. First identified in 2020, it predominantly affects men over the age of 50. Clinical manifestations commonly include recurrent fever, weight loss, skin lesions, and diverse inflammatory presentations across multiple organ ...
T. Najdi, S. Karaa
openaire +2 more sources
Differential diagnosis of chronic spontaneous urticaria [PDF]
Patients with chronic recurrent wheals are most commonly diagnosed with chronic spontaneous urticaria, although a number of autoimmune, autoinflammatory and malignant diseases can be suspected based on certain "red flags".
Bonnekoh, Hanna +7 more
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Molecular MedicineVEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations.
Xiao Xiao Li +8 more
doaj +1 more source
Targeting enhanced cell death represents a potential therapeutic strategy for VEXAS syndrome [PDF]
横浜市立大学博士（医学）2024年度doctoral ...
安達 聡一郎
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