Myeloid and lymphoid vacuolation in VEXAS syndrome
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Hematology"
DOI: 10.1002/ajh.26098
Abstract: A 70-year-old Chinese male presented with unexplained fever, relapsing polychondritis, macrocytic anemia, acute necrotising lymphadenitis, skin papules that were in keeping histologically with Kikuchi-Fujimoto disease, and pulmonary embolism secondary to extensive unprovoked right lower limb… read more here.
Keywords: vexas syndrome; precursor cell; vacuolation; left vacuolation ... See more keywords
Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Seminars in hematology"
DOI: 10.1053/j.seminhematol.2021.10.007
Abstract: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly characterized syndrome with underlying somatic UBA1 mutations in myeloid cells linking hematologic disease with autoinflammatory rheumatologic disorders. Hematologic abnormalities, particularly peripheral blood cytopenia(s) may prompt… read more here.
Keywords: bone; characteristic bone; vexas syndrome; bone marrow ... See more keywords
Recurrent orbital inflammation associated with VEXAS syndrome.
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DOI: 10.1080/01676830.2022.2126501
Abstract: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly recognised adult-onset multisystem autoinflammatory disease caused by a somatic mutation in the UBA1 gene in myeloid or erythroid precursor cells. This report describes an… read more here.
Keywords: orbital inflammation; syndrome; associated vexas; vexas syndrome ... See more keywords
Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Rheumatology"
DOI: 10.1093/rheumatology/kead245
Abstract: OBJECTIVE To retrospectively identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) among male patients with bone marrow vacuolization using a clinically applicable, targeted-screening approach. METHODS Bone marrow reports from 1 May… read more here.
Keywords: syndrome; vexas syndrome; bone marrow; cytoplasmic vacuolization ... See more keywords
A "Leopard Man" Aspect on 18F-FDG PET/CT Revealing a VEXAS Syndrome.
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DOI: 10.1097/rlu.0000000000004443
Abstract: ABSTRACT VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory disease caused by somatic UBA1 mutations first described in 2020. Most of these patients met clinical criteria for an inflammatory syndrome (relapsing… read more here.
Keywords: leopard man; man; man aspect; fdg pet ... See more keywords
Aortitis PET Imaging in VEXAS Syndrome: A Case Report.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nuclear medicine"
DOI: 10.1097/rlu.0000000000004506
Abstract: ABSTRACT VEXAS (vacuoles, E1 enzyme, X-LINKED, autoinflammatory, somatic) syndrome is a complex inflammatory disease associated with somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. A 75-year-old man with a medical history of… read more here.
Keywords: pet imaging; imaging vexas; syndrome case; aortitis pet ... See more keywords
Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients *
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Dermatology"
DOI: 10.1111/bjd.20805
Abstract: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome (‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’). read more here.
Keywords: features vexas; clinical laboratory; syndrome large; laboratory features ... See more keywords
Working towards a better understanding of VEXAS syndrome
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Dermatology"
DOI: 10.1111/bjd.20949
Abstract: cal mast-cell stabilizers, topical corticosteroids and topical calcineurin inhibitors. Dose adjustment or even cessation of the causative drug may be required in severe cases. In conclusion, with the limited data, it appears that tralokinumab is… read more here.
Keywords: better understanding; ophthalmology; towards better; understanding vexas ... See more keywords
VEXAS syndrome: lessons learnt from an early Australian case series
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine Journal"
DOI: 10.1111/imj.15742
Abstract: VEXAS is a newly recognised adult‐onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the… read more here.
Keywords: learnt early; vexas; lessons learnt; syndrome lessons ... See more keywords
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2022016985
Abstract: Somatic mutations in UBA1 cause VEXAS (Vacuoles, E1 ubiquitin activating enzyme, X-linked, Autoinflammatory Somatic) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and… read more here.
Keywords: cytoplasmic uba1; uba1 contributes; pathogenesis; vexas syndrome ... See more keywords
Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.678927
Abstract: 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. All patients had myeloid lineage-restricted somatic mutations in UBA1… read more here.
Keywords: mild; vexas syndrome; macrophage activation; activation syndrome ... See more keywords