Log in

Relevant bibliographies by topics / VEXAS / Journal articles

To see the other types of publications on this topic, follow the link: VEXAS.

Journal articles on the topic 'VEXAS'

Author: Grafiati

Published: 24 May 2025

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'VEXAS.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Mizumaki, Hiroki, Shouguo Gao, Zhijie Wu, et al. "Single-Cell Multi-Omics Analysis Reveals Dysfunctional Features of the Immune Responses in Vexas Syndrome." Blood 144, Supplement 1 (2024): 4056. https://doi.org/10.1182/blood-2024-198166.

Full text

Abstract:

Background VEXAS syndrome is a newly-described adult-onset autoinflammatory disease caused by somatic UBA1 mutations. In VEXAS, UBA1 mutations are restricted to hematopoietic stem cells and mature myeloid cells, which initiate severe systemic autoinflammation. In contrast, UBA1 mutations are not present in patients' mature lymphocytes, and circulating lymphocytes are decreased in peripheral blood (PB) of VEXAS patients, implying that wild-type UBA1 (wtUBA1) lymphoid cells are not actively involved in the pathophysiology of VEXAS. However, monoclonal B-cell lymphocytosis and plasma cell dyscras

APA, Harvard, Vancouver, ISO, and other styles

2

McLean-Tooke, Andrew. "VEXAS syndrome." Pathology 54 (March 2022): S24. http://dx.doi.org/10.1016/j.pathol.2021.12.082.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Laurent, Charlotte, Vincent Jachiet, Olivier Fain, and Arsene Mekinian. "Syndrome VEXAS." Hématologie 28, no. 6 (2022): 291–99. http://dx.doi.org/10.1684/hma.2022.1770.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Khitri, Mohamed-Yacine, Alexis F. Guedon, Sophie Georgin-Lavialle, et al. "Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients." RMD Open 8, no. 2 (2022): e002255. http://dx.doi.org/10.1136/rmdopen-2022-002255.

Full text

Abstract:

ObjectiveA new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic). We aimed to compare the clinical characteristics, the laboratory features and the outcomes between idiopathic-relapsing polychondritis (I-RP) and VEXAS-relapsing polychondritis (VEXAS-RP).MethodsPatients from French retrospective multicentre cohort of RP were separated into two groups: a VEXAS-RP and an I-RP.ResultsCompared with patients with I-RP (n=40), patients with VEXAS-RP (n=55) were men (96% vs 30%, p<0.001) and were older at diagnosis (66 v

APA, Harvard, Vancouver, ISO, and other styles

5

Rasch, Mads Nyhuus Bendix, Fruzsina Szabados, Jens Magnus Bernth Jensen, Kirstine Overgaard Nielsen, Ellen-Margrethe Hauge, and Anne Troldborg. "Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers." RMD Open 8, no. 2 (2022): e002492. http://dx.doi.org/10.1136/rmdopen-2022-002492.

Full text

Abstract:

BackgroundVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory condition with overlapping features of rheumatology and haematology caused by somatic mutations in the UBA1 gene. Patients present with highly variable symptoms and their path towards diagnosis are often complicated and characterised by extensive examinations. It is, therefore, pivotal that clinicians become familiar with the clinical presentation of VEXAS to advance identification of patients with the disease.ObjectivesWe aimed to (1) characterise patients diagnosed with VEXAS in a tertiary rheum

APA, Harvard, Vancouver, ISO, and other styles

6

Neupane, Karun, Apoorva Jayarangaiah, Yan Zhang, and Abishek Kumar. "VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome." BMJ Case Reports 15, no. 12 (2022): e251089. http://dx.doi.org/10.1136/bcr-2022-251089.

Full text

Abstract:

VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a novel inflammatory syndrome that was first described in December 2020. Patients with VEXAS syndrome have a somatic mutation in the UBA1 gene, inflammatory conditions and usually haematological conditions. Haematological conditions reported in patients with VEXAS syndrome include myelodysplastic syndrome (MDS), clonal cytopenia of undetermined significance, plasma cell neoplasm including multiple myeloma/monoclonal gammopathy of undetermined significance, haemophagocytic lymphohistiocytosis and monoclonal B-cell lymp

APA, Harvard, Vancouver, ISO, and other styles

7

Khramtsov, V., C. Spiniello, A. Agnello, and A. Sergeyev. "VEXAS: VISTA EXtension to Auxiliary Surveys." Astronomy & Astrophysics 651 (July 2021): A69. http://dx.doi.org/10.1051/0004-6361/202040131.

Full text

Abstract:

Context. We present the second public data release of the VISTA EXtension to Auxiliary Surveys (VEXAS), where we classify objects into stars, galaxies, and quasars based on an ensemble of machine learning algorithms. Aims. The aim of VEXAS is to build the widest multi-wavelength catalogue, providing reference magnitudes, colours, and morphological information for a large number of scientific uses. Methods. We applied an ensemble of thirty-two different machine learning models, based on three different algorithms and on different magnitude sets, training samples, and classification problems (tw

APA, Harvard, Vancouver, ISO, and other styles

8

Ferrada, M., K. Sikora, Y. Lou, et al. "OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 49. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3422.

Full text

Abstract:

Background:Somatic mutations in ubiquitin activating enzyme 1 (UBA1) cause a newly defined syndrome known as VEXAS. [1] More than fifty percent of patients currently identified with VEXAS meet diagnostic criteria for relapsing polychondritis (RP).Objectives:To determine the prevalence VEXAS within a cohort of patients with RP, to compare their clinical, laboratory, and immunologic features and to develop a clinical algorithm to inform genetic screening for VEXAS among patients with RP.Methods:Exome and targeted sequencing of the UBA1 gene was performed in a prospective observational cohort of

APA, Harvard, Vancouver, ISO, and other styles

9

Puseljic, M., J. Schmid, J. Igrec, et al. "Pulmonary manifestations of VEXAS syndrome with acute interstitial pneumonia and diffuse alveolar hemorrhage: a case report and literature review." ARP Rheumatology 3, no. 2 (2024): 151–56. http://dx.doi.org/10.63032/evgb1553.

Full text

Abstract:

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an emerging adult-onset systemic autoinflammatory disorder affecting multiple organ systems. While lung involvement is common in this syndrome, literature regarding specific patterns is sparse. In this report, we present a case description of a patient with VEXAS syndrome who presented at the emergency department on two separate occasions with acute interstitial pneumonia (AIP) and diffuse alveolar hemorrhage (DAH). A literature review with a comparison of our observed findings to the general findings of VEXAS syndrom

APA, Harvard, Vancouver, ISO, and other styles

10

Ruffer, Nikolas, and Martin Krusche. "VEXAS syndrome: a diagnostic puzzle." RMD Open 9, no. 3 (2023): e003332. http://dx.doi.org/10.1136/rmdopen-2023-003332.

Full text

Abstract:

The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad range of phenotypes such as vasculitis, relapsing polychondritis and Sweet’s syndrome. In the past, VEXAS patients have left clinicians puzzled and the true nature of this disease has not been captured until late 2020. This viewpoint describes the relevant clinical features of the VEXAS syndrome and re

APA, Harvard, Vancouver, ISO, and other styles

11

Krusche, Martin, and Ina Kötter. "Das VEXAS-Syndrom." Arthritis und Rheuma 42, no. 04 (2022): 247–50. http://dx.doi.org/10.1055/a-1883-0972.

Full text

Abstract:

ZUSAMMENFASSUNGDas VEXAS-Syndrom ist eine neu identifizierte autoinflammatorische Systemerkrankung. Dabei steht das Akronym VEXAS für Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. Zugrundeliegend für die Erkrankung ist eine somatische Mutation des UBA1-Gens. Dieses kodiert für das E1-Enzym, welches für die Ubiquitinierung von Proteinen verantwortlich ist. Aufgrund der fehlerhaften Ubiquitinierung kommt es zu einer Überregulierung von proinflammatorischen Zytokinen. Da das UBA1-Gen auf dem X-Chromosom liegt, sind von der Erkrankung fast nur Männer betroffen. Interessanterweise tritt

APA, Harvard, Vancouver, ISO, and other styles

12

Zhang, Yue, Xifeng Dong, and Huaquan Wang. "VEXAS Syndrome—Review." Global Medical Genetics 10, no. 03 (2023): 133–43. http://dx.doi.org/10.1055/s-0043-1770958.

Full text

Abstract:

AbstractVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells, resulting in a shift in UBA1 isoform expression. Thus, patients develop a spectrum of systemic inflammatory manifestations and hematologic symptoms. To date, patients respond poorly to immune suppressive drugs, except high-dose glucocorticoids, and no treatment guidelines have been established. Given the high mort

APA, Harvard, Vancouver, ISO, and other styles

13

De Maleprade, B., F. Jastrzebski, Y. Benhamou, et al. "Hématopoïèse clonale VEXAS et non VEXAS : caractérisation de l’atteinte articulaire." Revue du Rhumatisme 91 (December 2024): A95—A96. http://dx.doi.org/10.1016/j.rhum.2024.10.390.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

de Maleprade, B., F. Jastrzebski, Y. Benhamou, et al. "POS1115 VEXAS AND NON-VEXAS CLONAL HAEMATOPOIESIS: DETERMINING JOINT INVOLVEMENT." Annals of the Rheumatic Diseases 84 (June 2025): 1198. https://doi.org/10.1016/j.ard.2025.06.466.

Full text

APA, Harvard, Vancouver, ISO, and other styles

15

Bindoli, Sara, Chiara Baggio, Andrea Doria, Eugenia Bertoldo, and Paolo Sfriso. "JAK inhibitors for the treatment of VEXAS syndrome." Experimental Biology and Medicine 248, no. 5 (2023): 394–98. http://dx.doi.org/10.1177/15353702231165030.

Full text

Abstract:

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a novel described autoinflammatory entity for which the diagnosis is defined by somatic mutations of the UBA1 X-linked gene in hematopoietic progenitor cells. The clinical manifestations are heterogeneous since they range from autoinflammatory symptoms to the presence of underlying hematologic disorders such as myelodysplastic syndromes. Response to treatment in VEXAS is very poor and to date, the therapeutic strategies adopted are only partially effective. However, recently described cohorts of subjects with VEXAS tr

APA, Harvard, Vancouver, ISO, and other styles

16

Molteni, Raffaella, Martina Fiumara, Corrado Campochiaro, et al. "Unraveling Pathophysiology and Hematopoiesis of Vexas Syndrome By Multi-Omics Analyses and Targeted Gene Editing." Blood 142, Supplement 1 (2023): 2692. http://dx.doi.org/10.1182/blood-2023-179749.

Full text

Abstract:

Background and Rationale VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described, treatment-refractory, severe, highly prevalent disease (~1:4,000 males aged &gt;50 years) caused by somatic mutations in the UBA1 (ubiquitin-activating enzyme 1) gene of hematopoietic stem/progenitor cells (HSPCs). VEXAS is hallmarked by vacuoles in myeloid/erythroid precursors and presents with systemic inflammation. About 50% patients develop hematologic malignancies, including myelodysplasia, contributing to the poor prognosis. The pathophysiology and impact of VEXAS

APA, Harvard, Vancouver, ISO, and other styles

17

Demmerle, Marie, Alessa Klär, Alexander Streuer, et al. "Primary Hematopoietic Cells of Vexas Patients Are Highly Sensitive to Treatment with TAK-243 and Pevonedistat." Blood 144, Supplement 1 (2024): 2670. https://doi.org/10.1182/blood-2024-204760.

Full text

Abstract:

Introduction: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome represents a newly identified autoinflammatory disease characterized by somatically acquired mutations in the ubiquitin-activating enzyme 1 (UBA1) gene in hematopoietic cells, frequently associated with myelodysplastic neoplasms (MDS). The UBA1 protein plays a crucial role in post-translational modification processes, including ubiquitination and neddylation, which are essential for protein folding and degradation. Given the recent discovery of VEXAS, standardized treatment options are not yet established,

APA, Harvard, Vancouver, ISO, and other styles

18

Diarra, Ava, Nicolas Duployez, Elise Fournier, et al. "Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience." Blood Advances 6, no. 3 (2022): 998–1003. http://dx.doi.org/10.1182/bloodadvances.2021004749.

Full text

Abstract:

Abstract The recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS syndrome display late-onset autoinflammatory symptoms, usually refractory to treatment, and hematologic abnormalities. The identification of an easily-accessible specific marker (UBA1 mutations) is of particular interest as it allows the convergence of various inflammatory and hematological symptoms in a unique clinico-biological entity and gives the opportunity to design specific treatment strategies. Here we retrospectively iden

APA, Harvard, Vancouver, ISO, and other styles

19

Austestad, Janne, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, and Håkon Reikvam. "VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia." Case Reports in Hematology 2023 (February 25, 2023): 1–7. http://dx.doi.org/10.1155/2023/6551544.

Full text

Abstract:

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. There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a ca

APA, Harvard, Vancouver, ISO, and other styles

20

Wöllenstein, Philippe, Florence Vallelian, Zsuzsanna Varga, Hanna Honcharova, Christoph A. Meier, and Maurice Roeder. "Fatal haemorrhage in VEXAS syndrome: a lethal complication unveiled." BMJ Case Reports 18, no. 7 (2025): e263741. https://doi.org/10.1136/bcr-2024-263741.

Full text

Abstract:

VEXAS (vacuoles, E1 enzyme, x-linked, autoinflammatory, somatic) syndrome is an adult-onset auto-inflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. Patients exhibit a broad spectrum of inflammatory manifestations and haematological disorders. While haematological manifestation includes macrocytic anaemia, thrombosis, bone marrow abnormalities and haematological neoplasms, inflammation can involve multiple organs, including the skin, cartilage, gastrointestinal tract, lungs, brain and vascular system. VEXAS-associated vasculitis, wh

APA, Harvard, Vancouver, ISO, and other styles

21

Baur, Vera, Johanna Stoevesandt, Axel Hueber, et al. "VEXAS‐Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 21, no. 12 (2023): 1456–64. http://dx.doi.org/10.1111/ddg.15227_g.

Full text

Abstract:

ZusammenfassungDas VEXAS‐Syndrom ist eine kürzlich erstbeschriebene autoinflammatorische Systemerkrankung, die auf einer erworbenen, somatischen Mutation des X‐chromosomal lokalisierten UBA1‐Gens, dem Schlüsselenzym des ersten Schritts der Ubiquitinierung, beruht. Das Akronym VEXAS steht für die Charakteristika Vacuoles, E1 enzyme, X‐linked, autoinflammatory und somatic. Die Erkrankung tritt im fortgeschrittenen Erwachsenenalter vorzugsweise bei Männern auf und ist insbesondere durch hämatologische, rheumatologische und dermatologische Symptome gekennzeichnet. Letztere umfassen unter anderem n

APA, Harvard, Vancouver, ISO, and other styles

22

Patel, Bhavisha A., and Neal S. Young. "Towards treatments for VEXAS." British Journal of Haematology 196, no. 4 (2021): 804–5. http://dx.doi.org/10.1111/bjh.17930.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Shopsowitz, Kevin, Alym Abdulla, and Habib Moshref Razavi. "IVLBCL mimicking VEXAS syndrome." Lancet Oncology 25, no. 10 (2024): e526. http://dx.doi.org/10.1016/s1470-2045(24)00500-x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Beck, D. "AUTO-INFLAMMATION AND VEXAS." Leukemia Research 128 (May 2023): 107081. http://dx.doi.org/10.1016/j.leukres.2023.107081.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Mathian, Alexis. "Syndrome VEXAS et thrombose." JMV-Journal de Médecine Vasculaire 49, no. 1 (2024): 10. http://dx.doi.org/10.1016/j.jdmv.2024.01.064.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

J. Khan, Salman. "Exploring the Enigma of VEXAS Syndrome: A New Frontier in Medicine." Clinical Case Reports and Studies 3, no. 3 (2023): 1–3. http://dx.doi.org/10.59657/2837-2565.brs.23.069.

Full text

Abstract:

In the realm of modern medicine, the discovery of novel diseases often presents both challenges and opportunities. VEXAS syndrome, an acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome, is a striking example of a unique monogenic disorder that has recently come to light. This syndrome represents a bridge between the worlds of rheumatology and hematology, and its clinical manifestations have left clinicians and researchers perplexed. In this editorial, I will delve into the complexity of VEXAS syndrome, exploring its clinical features, genetic underpinnings, and the q

APA, Harvard, Vancouver, ISO, and other styles

27

Obiorah, Ifeyinwa Emmanuela, Bhavisha A. Patel, Emma M. Groarke, et al. "Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1." Blood Advances 5, no. 16 (2021): 3203–15. http://dx.doi.org/10.1182/bloodadvances.2021004976.

Full text

Abstract:

Abstract Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS. All patients were male and had a history of severe autoinflammatory and rheumatologic manifestations and a somatic UBA1 mutation (p.Met41). Ten patients had hematologic disorders: myelodysplastic syndrome (MDS; 6 of 16), multiple myeloma (2 of 16), monoclonal gammopathy of

APA, Harvard, Vancouver, ISO, and other styles

28

Clough, Courtnee A., Claire Cunningham, Sophia Philbrook, and Daniel Starczynowski. "Characterization of E1 Ligase Dependencies in a Mutant-UBA1 Human Cell Model Reveals UBA6 As a Novel Therapeutic Target in Vexas Syndrome." Blood 144, Supplement 1 (2024): 4049. https://doi.org/10.1182/blood-2024-207451.

Full text

Abstract:

VEXAS (Vacuoles, E1-ligase, X-linked, Autoinflammatory, Somatic) syndrome is a newly defined clonal hematopoietic malignancy that often co-occurs with myelodysplastic syndromes (MDS). It is characterized by hyperinflammation, bone marrow failure, and high rates of mortality. Somatic hotspot mutations at methionine 41 (M41) in the E1 ubiquitin ligase, UBA1, define the molecular feature of the disease. Humans express two major E1 ubiquitin ligases, UBA1 and UBA6 but the function of either E1 in regulation of the ubiquitinome is not fully understood. UBA1, the most abundant E1 ubiquitin ligase, i

APA, Harvard, Vancouver, ISO, and other styles

29

Wolff, Louis, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, and Denis Comte. "Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review." Cells 13, no. 22 (2024): 1890. http://dx.doi.org/10.3390/cells13221890.

Full text

Abstract:

VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD). This syndrome is characterized by the presence of vacuoles, X-linked inheritance, autoinflammation, and somatic mutation patterns, highlighting a unique intersection between genetic and immunological dysregulation. Apart from VEXAS, 10% to 30% of individuals diagnosed with MDS exhibit SIAD phenotypes, a significant increase compared to the 5% incidence in the g

APA, Harvard, Vancouver, ISO, and other styles

30

Sowa, Aleksandra, Marta Malicka, Magdalena Biernacka, Jan Aleksander Beszłej, and Jerzy Leszek. "VEXAS Syndrome and Alzheimer’s Disease—Are There Connections?" Brain Sciences 15, no. 6 (2025): 573. https://doi.org/10.3390/brainsci15060573.

Full text

Abstract:

VEXAS syndrome and Alzheimer’s disease (AD), though distinct in clinical manifestations, share overlapping pathophysiological mechanisms, including systemic inflammation, protein misfolding, and vascular dysfunction. VEXAS syndrome, a rare autoinflammatory disorder characterized by somatic UBA1 mutations, systemic inflammation, and hematologic abnormalities, presents primarily in older males. Meanwhile, AD, the leading cause of dementia, involves progressive neurodegeneration driven by amyloid-beta plaques, tau tangles, and chronic neuroinflammation. This article explores potential connections

APA, Harvard, Vancouver, ISO, and other styles

31

Chiaramida, Adriana, Sandra G. Obwar, Anja E. H. Nordstrom, et al. "Sensitivity to targeted UBA1 inhibition in a myeloid cell line model of VEXAS syndrome." Blood Advances 7, no. 24 (2023): 7445–56. http://dx.doi.org/10.1182/bloodadvances.2023010531.

Full text

Abstract:

Abstract Somatic UBA1 mutations in hematopoietic cells are a hallmark of Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, which is a late-onset inflammatory disease associated with bone marrow failure and high mortality. The majority of UBA1 mutations in VEXAS syndrome comprise hemizygous mutations affecting methionine-41 (M41), leading to the expression of UBA1M41T, UBA1M41V, or UBA1M41L and globally reduced protein polyubiquitination. Here, we used CRISPR-Cas9 to engineer isogenic 32D mouse myeloid cell lines expressing hemizygous Uba1WT or Uba1M41L from the endogen

APA, Harvard, Vancouver, ISO, and other styles

32

Delplanque, Marion, Achille Aouba, Pierre Hirsch, et al. "USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still’s Disease in Elderly Patients." Journal of Clinical Medicine 10, no. 23 (2021): 5586. http://dx.doi.org/10.3390/jcm10235586.

Full text

Abstract:

Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). Objectives: To describe a cohort of patients with signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/chronic myelomonocytic leukemia (CMML) and the prevalence of VEXAS proposed management and outcome. Methods

APA, Harvard, Vancouver, ISO, and other styles

33

Corty, Robert W., James Brogan, Kevin Byram, Jason Springer, Peter C. Grayson, and Alexander Bick. "Analysis of 245,368 diverse individuals in NIHAll of Us Program finds incomplete penetrance of VEXAS‐defining UBA1 p.Met41Leu somatic variant." Arthritis & Rheumatology, January 15, 2024. http://dx.doi.org/10.1002/art.42802.

Full text

Abstract:

ObjectiveSomatic variants in UBA1 cause VEXAS, a recently described, systemic auto‐inflammatory disease. Research on VEXAS has largely focused on highly symptomatic patients. We sought to determine the prevalence of canonical, VEXAS‐associated somatic variants and their disease penetrance in a diverse, unselected population.MethodsWe analyzed clinical‐grade whole genome sequencing data from 245,368 participants in the All of Us Research Program. We compared persons carrying a canonical VEXAS‐associated somatic variant to age, sex, and ancestry matched controls across the domains of diagnoses,

APA, Harvard, Vancouver, ISO, and other styles

34

Lecoeuvre, Hortense, Franҫois Le Gall, Cécile Le Naoures, et al. "Clinical and histological features of histiocytoid Sweet syndrome associated with VEXAS syndrome." Clinical and Experimental Dermatology, February 16, 2024. http://dx.doi.org/10.1093/ced/llae015.

Full text

Abstract:

Abstract Background “Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic” (VEXAS) syndrome is caused by acquired somatic mutations in the ubiquitin-activating enzyme 1 (UBA1) gene. Sweet-syndrome-like skin disorders (and especially histiocytoid Sweet syndrome (HSS)) may be associated with VEXAS syndrome. Objective To characterize the clinical and histopathological features of HSS in patients with VEXAS syndrome. Methods The skin biopsies with a histological diagnosis of HSS had been collected at Rennes University Medical Center (Rennes, France) between October 2011 and January 2022. Sange

APA, Harvard, Vancouver, ISO, and other styles

35

Grayson, Peter C., Bhavisha A. Patel, and Neal S. Young. "VEXAS Syndrome." Blood, May 10, 2021. http://dx.doi.org/10.1182/blood.2021011455.

Full text

Abstract:

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, beyond glucocorticoids, need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of dise

APA, Harvard, Vancouver, ISO, and other styles

36

Uchino, Kaori, Jo Kanasugi, Megumi Enomoto, et al. "VEXAS syndrome." International Journal of Hematology, September 3, 2022. http://dx.doi.org/10.1007/s12185-022-03448-z.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Zeeck, M., I. Kötter, and M. Krusche. "VEXAS-Syndrom." Zeitschrift für Rheumatologie, February 18, 2022. http://dx.doi.org/10.1007/s00393-022-01169-6.

Full text

Abstract:

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. Dieses kodiert für das E1-Enzym, welches wiederum für die Ubiquitinierung von Proteinen verantwortlich ist. Aufgrund der Lage des Gens auf dem X‑Chromosom betrifft die Erkrankung überwiegend Männer (in der zweiten Lebenshälfte). Die Patienten weisen eine Plethora an inflammatorischen klinischen Symptomen – oft mit Überlappung vo

APA, Harvard, Vancouver, ISO, and other styles

38

Krusche, Martin. "VEXAS-Syndrom." Zeitschrift für Rheumatologie, September 28, 2024. http://dx.doi.org/10.1007/s00393-024-01577-w.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

Nakajima, Hideaki, and Hiroyoshi Kunimoto. "VEXAS syndrome." International Journal of Hematology, May 31, 2024. http://dx.doi.org/10.1007/s12185-024-03799-9.

Full text

Abstract:

AbstractVEXAS 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 clustered at the second methionine (p.Met41), eliminating UBA1b isoform translated from p.Met41. Loss of UBA1b impairs ubiquitination and activates innate immune pathways, leading to systemic autoinflammation manifested as recurrent fever, chondritis, pulm

APA, Harvard, Vancouver, ISO, and other styles

40

Najdi, T., and S. Karaa. "Think VEXAS: a case report of Vexas syndrome." Journal of Rare Diseases 3, no. 1 (2024). http://dx.doi.org/10.1007/s44162-024-00058-7.

Full text

Abstract:

AbstractVEXAS 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 systems. Diagnosing VEXAS syndrome can be challenging due to the overlap of symptoms with other autoimmune and inflammatory conditions, often requiring extensive medical evaluation before a definitive diagnosis is made. This case report highlights t

APA, Harvard, Vancouver, ISO, and other styles

41

Mendonça, Leonardo Oliveira, Vinicius N. C. Leal, Mariela V. Roa, Samar Freschi Barros, Jorge Kalil, and Alessandra Pontillo. "Unexplained fever with consumptive syndrome in the elderly: two cases of VEXAS syndrome with inflammasome dysregulation." Clinical and Experimental Immunology, August 9, 2024. http://dx.doi.org/10.1093/cei/uxae069.

Full text

Abstract:

Abstract The aim of this study is to investigate the inflammasome dysregulation in peripheral blood leukocytes of VEXAS patients. The constitutive and in vitro triggered activation of inflammasome in PBMC and neutrophils was analysed in two Brazilian patients with typical UBA1 mutations, and compared with heathy donors. Our findings highlight the constitutive activation of caspase-1 in VEXAS leukocytes, accompanied by increased plasma levels of IL-18. Furthermore, upon stimulation of isolated peripheral blood mononuclear cells (PBMC) and neutrophils, we observed not only the exhaustion of NLRP

APA, Harvard, Vancouver, ISO, and other styles

42

Baggio, Chiara, Francesca Oliviero, Roberto Padoan, et al. "Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis." Frontiers in Immunology 15 (October 3, 2024). http://dx.doi.org/10.3389/fimmu.2024.1466720.

Full text

Abstract:

VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic mutations in the UBA1 X-linked gene in hematopoietic progenitor cells. Several studies have demonstrated that the presence of vacuoles in progenitor cells from bone marrow aspirates is a hallmark finding for this syndrome. Therefore, this study aimed to characterize leukocytes from VEXAS patients versus patients with ANCA-associated vasculitis (AAV), familial Mediterranean fever (FMF), and healthy donors (HD) to define a specific cytological pattern that can support VEXAS diagnosis. Twelve VEXAS patients were

APA, Harvard, Vancouver, ISO, and other styles

43

Chabrun, Floris, Valentin Lacombe, Xavier Dieu, Franck Geneviève, and Geoffrey Urbanski. "Accurate stratification between VEXAS syndrome and differential diagnoses by deep learning analysis of peripheral blood smears." Clinical Chemistry and Laboratory Medicine (CCLM), February 2, 2023. http://dx.doi.org/10.1515/cclm-2022-1283.

Full text

Abstract:

Abstract Objectives VEXAS syndrome is a newly described autoinflammatory disease associated with UBA1 somatic mutations and vacuolization of myeloid precursors. This disease possesses an increasingly broad spectrum, leading to an increase in the number of suspected cases. Its diagnosis via bone-marrow aspiration and UBA1-gene sequencing is time-consuming and expensive. This study aimed at analyzing peripheral leukocytes using deep learning approaches to predict VEXAS syndrome in comparison to differential diagnoses. Methods We compared leukocyte images from blood smears of three groups: partic

APA, Harvard, Vancouver, ISO, and other styles

44

Jones, Can, Stanislav Ivanov, Pablo Ferraro, Souhad Younes, and Hugo Fernandez. "Case report: VEXAS syndrome and literature review." Frontiers in Hematology 3 (November 13, 2024). http://dx.doi.org/10.3389/frhem.2024.1480436.

Full text

Abstract:

VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. They usually have systemic inflammation and present with a combination of hematologic and rheumatologic abnormalities such as myelodysplastic syndrome and polychondritis. VEXAS syndrome patients are at increased risk of developing hematologic malignancies. We present a case of a 60-year-old male who developed transfusion-dependent macrocytic anemia, was foun

APA, Harvard, Vancouver, ISO, and other styles

45

Diral, Elisa, Corrado Campochiaro, Alessandro Tomelleri, et al. "Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort." Frontiers in Immunology 15 (January 25, 2024). http://dx.doi.org/10.3389/fimmu.2024.1354130.

Full text

Abstract:

VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopeni

APA, Harvard, Vancouver, ISO, and other styles

46

Kötter, Ina, and Martin Krusche. "VEXAS syndrome: an adult-onset autoinflammatory disorder with underlying somatic mutation." Current Opinion in Rheumatology, October 28, 2024. http://dx.doi.org/10.1097/bor.0000000000001068.

Full text

Abstract:

Purpose of review VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) was first described in 2020, where in a cohort of adults with unexplained fever or inflammation, systematic genetic testing was performed and 25 men with a median age of 64 years and somatic mutations in the UBA1 gene were identified. In the current review, we aim to discuss the relevant literature from January 2023 until July 2024 to give new insights into the pathophysiology, epidemiology, diagnosis and treatment of VEXAS. Recent findings VEXAS affects 1 : 4269 in men over the age of 50. Janus-Kinase-

APA, Harvard, Vancouver, ISO, and other styles

47

Heiblig, Maël, Adriana Plesa, Juliet Tantot, Yvan Jamilloux, Hélène Labussière‐Wallet, and Pierre Sujobert. "Myeloid neoplasm inspired intensive therapy in VEXAS syndrome: A single‐centre experience." British Journal of Haematology, April 8, 2025. https://doi.org/10.1111/bjh.20067.

Full text

Abstract:

SummaryThere is still no standard of care and unmet medical needs in refractory/advanced VEXAS (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X‐linked, autoinflammatory manifestations and somatic) syndrome with or without associated haematological neoplasm. We report the clinical outcome of four multirefractory/advanced VEXAS patients treated with acute myeloid leukaemia‐like therapeutic approaches. All patients responded to inflammatory/haematological VEXAS‐related features, which were associated with measurable residual disease response (partial or complete). Prospective s

APA, Harvard, Vancouver, ISO, and other styles

48

Abumanhal, Muhammad, Igal Leibovitch, Michael Zisapel, Tali Eviatar, Yonatan Edel, and Ran Ben Cnaan. "Ocular and orbital manifestations in VEXAS syndrome." Eye, March 28, 2024. http://dx.doi.org/10.1038/s41433-024-03014-3.

Full text

Abstract:

Abstract Background VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre. Methods A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two yea

APA, Harvard, Vancouver, ISO, and other styles

49

Martinez Rodriguez, Ana, Leon Chang, Dorota Rowczenio, et al. "Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population." British Journal of Haematology, May 25, 2025. https://doi.org/10.1111/bjh.20176.

Full text

Abstract:

SummarySomatic mutations in UBA1 are linked to VEXAS syndrome, a late‐onset inflammatory disorder with rheumatological and haematological features, primarily affecting elderly men. This study examines the epidemiology of VEXAS in the United Kingdom using genomic databases and patient cohorts to estimate prevalence, identify novel UBA1 variants and predict their pathogenicity. Analysing data from the UK Biobank, 100 000 Genomes Project and clinical diagnostic laboratories, we found that VEXAS prevalence in UK males over 50 is lower than in US‐based cohorts. Notably, canonical (Met41) UBA1 mutat

APA, Harvard, Vancouver, ISO, and other styles

50

Sharrack, Sana, Emma Phillips, and Rachel S. Tattersall. "OA28 VEXAS, a service evaluation in Rheumatology at Sheffield: “Seek, and ye shall find”." Rheumatology 64, Supplement_3 (2025). https://doi.org/10.1093/rheumatology/keaf142.028.

Full text

Abstract:

Abstract Background/Aims VEXAS syndrome newly describes a spectrum of systemic inflammatory and haematological disease related to UBA1 gene mutation. Clinical features presenting to rheumatologists and haematologists are commonly diagnosed as relapsing polychondritis (RP), polyarteritis nodosa (PAN), and myelodysplastic syndromes (MDS), respectively. VEXAS is steroid responsive but refractory to conventional DMARDs so the risk of undiagnosed VEXAS is patient exposure to unnecessary and potentially harmful treatment. Emerging evidence suggests that early diagnosis is important to consider poten

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!