How Protein Ubiquitination Can Influence Cytokine Expression—Updated Review on Autoinflammatory VEXAS Syndrome DOI Creative Commons

Dominika Majer,

Matylda Kujawińska,

Piotr Limanówka

et al.

Immuno, Journal Year: 2024, Volume and Issue: 4(3), P. 286 - 300

Published: Sept. 23, 2024

VEXAS syndrome is a new disease entity with symptoms that can mimic hematological, rheumatic and dermatological diseases. It important to take multidisciplinary approach patient care, taking into account genetic testing, in which the presence of mutations UBA1 gene confirm diagnosis. mutation has been shown be involved induction inflammatory response through many different mechanisms. NF-κB TNF-α pathways appear most syndrome. There are result outcomes, suggesting it possible prognostic factor. Furthermore, differ how they impair function. Cytokines have significantly altered patients; however, their exact expression importance were not clearly defined. Interleukins, such as interleukin (IL)-6, IL-1, IL-2R others, reported expressed at an level, similarly other cytokines, IFN-γ or TNF-α. worth noting certain cytokines vary between patients, poses therapeutic difficulties selecting right drug. Therefore, aim this review was describe associate mutation.

Language: Английский

Allogeneic hematopoietic cell transplantation for VEXAS syndrome: results of a multicenter study of the EBMT DOI Creative Commons
Carmelo Gurnari,

Linda Köster,

Laurien Baaij

et al.

Blood Advances, Journal Year: 2024, Volume and Issue: 8(6), P. 1444 - 1448

Published: Feb. 8, 2024

Language: Английский

Citations

24
Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX DOI
Jérôme Hadjadj, Yann Nguyen,

Dalila Mouloudj

et al.

Annals of the Rheumatic Diseases, Journal Year: 2024, Volume and Issue: 83(10), P. 1358 - 1367

Published: May 22, 2024

Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset disease associated with ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy safety of targeted therapies.

Language: Английский

Citations

16
Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow‐up of vacuolization and UBA1 clonal dynamics DOI Open Access
José Ramón Álamo Moreno,

Lucía Mont‐de Torres,

Sandra Castaño‐Díez

et al.

British Journal of Haematology, Journal Year: 2025, Volume and Issue: 206(2), P. 565 - 575

Published: Jan. 13, 2025

VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized cytoplasmic vacuoles in myeloid erythroid precursor cells. Although there currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, only partial effectiveness. Hypomethylating agents (HMA) have shown promise concomitant myelodysplastic (MDS), while the efficacy of HMA without MDS largely unknown. Furthermore, usefulness monitoring variant allele frequency (VAF) or vacuolization cells over course has not been extensively investigated. We evaluated four performed longitudinal analyses VAF during treatment. led to overall clinical improvement, dramatic reduction UBA1, normalization haematological inflammatory markers quantifiable decrease vacuolization, leading us speculate that unlike therapies, may well act as disease-modifying If these findings confirmed further studies, it could lead early use all patients-with MDS.

Language: Английский

Citations

1
VEXAS syndrome: An update DOI
Mohamed-Yacine Khitri, Jérôme Hadjadj, A. Mékinian

et al.

Joint Bone Spine, Journal Year: 2024, Volume and Issue: 91(4), P. 105700 - 105700

Published: Feb. 1, 2024

Language: Английский

Citations

8
Use of sarilumab in VEXAS syndrome DOI
Adrián Mayo-Juanatey,

María José Fernández-Llavador,

Carlos Valera-Ribera

et al.

Lara D. Veeken, Journal Year: 2024, Volume and Issue: unknown

Published: Feb. 1, 2024

Journal Article Corrected proof Use of sarilumab in VEXAS syndrome Get access Adrián Mayo-Juanatey, Mayo-Juanatey Department Rheumatology, Doctor Peset University Hospital, Valencia, Spain Correspondence to: Rheumatology Department, 2nd Floor, Calle Juan de Garay, 21, 46017 Spain. E-mail: [email protected] https://orcid.org/0009-0008-5434-3021 Search for other works by this author on: Oxford Academic PubMed Google Scholar María José Fernández-Llavador, Fernández-Llavador Haematology and Hemotherapy, Carlos Valera-Ribera, Valera-Ribera Elia Valls-Pascual, Valls-Pascual Alegre-Sancho keae068, https://doi.org/10.1093/rheumatology/keae068 Published: 01 February 2024 history Accepted: 18 January typeset: 23

Language: Английский

Citations

5
Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine DOI Creative Commons
Roberto Pereira da Costa, Guilherme Sapinho, Matilde Bandeira

et al.

Frontiers in Immunology, Journal Year: 2024, Volume and Issue: 15

Published: May 22, 2024

VEXAS syndrome is a recently described autoinflammatory caused by the somatic acquisition of UBA1 mutations in myeloid precursors and frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying diagnosis. We describe case atypical resembling late-onset axial spondylarthritis, later progressing to systemic inflammatory chondritis, cutaneous vasculitis, transfusion-dependent anemia, requiring high doses steroids. Ruxolitinib was used as first steroid-sparing strategy without response. However, azacitidine showed activity controlling both inflammation mutant clone. This raises question whether azacitidine’s anti-inflammatory effects are dependent on or independent clonal control. discuss potential relevance molecular remission highlight importance multidisciplinary team for care such complex patients.

Language: Английский

Citations

4
Kaposi sarcoma post hematopoietic stem cell transplant for VEXAS syndrome DOI Creative Commons
Dennis Chen, Ryan J. Stubbins, Alannah Smrke

et al.

JAAD Case Reports, Journal Year: 2025, Volume and Issue: 58, P. 56 - 59

Published: Jan. 5, 2025

Citations

0
VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management DOI Creative Commons
Alessandro Nanni Costa, Federica Pilo,

Martina Pettinau

et al.

Annals of Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 17, 2025

Abstract VEXAS syndrome is a complex hemato-inflammatory disorder, driven by somatic mutations in the UBA1 gene within hematopoietic precursor cells. It characterized systemic inflammation, rheumatological manifestations, and frequent association with myelodysplastic (MDS). We present series of four cases, all which include concomitant MDS, each displaying distinct genetic signatures clinical features at diagnosis, focus on their diagnostic therapeutic implications. Our findings underscore importance extending sequencing beyond exon 3 cases strong suspicion. Given rarity non-canonical variants limited annotation, germline tissue control should be considered to differentiate from mutations. Hematological management, including considerations for transplantation, was primarily guided Revised International Prognostic Scoring System (IPSS-R) MDS due absence specific risk stratification system or therapy guidelines. A critical point our discussion role inflammation peri-transplant period; one patient, combination disease-modifying antirheumatic drugs (DMARDs) high-dose corticosteroids before transplant crucial controlling resulting successful stem cell transplantation (HSCT). In contrast, uncontrolled contributed death another patient. These highlight effective management optimizing HSCT outcomes. Additionally, study emphasizes urgent need guidelines syndrome, comprehensive optimal timing transplantation.

Language: Английский

Citations

0
Relapsing polychondritis: tracheobronchial involvement and differential diagnoses DOI Open Access
Louis Grandière,

Hugues Vicaire,

Gabriel Pop

et al.

Journal of Thoracic Disease, Journal Year: 2025, Volume and Issue: 17(1), P. 461 - 475

Published: Jan. 1, 2025

This review is describing the diagnostic and therapeutic approach to tracheobronchial involvement in relapsing polychondritis (RP), with a focus on differential diagnoses of inflammatory origin. RP systemic auto-immune disease that mainly affects cartilage structures, progressing through flare-ups between phases remission ultimately leading deformation involved cartilages. Besides damage auricular or nasal cartilage, cardiac are most severe, can seriously alter prognosis. Tracheobronchial lesions assessed multimodal approach. Mapping tracheal achieved using dynamic thoracic imaging flexible bronchoscopy. Measurement pulmonary function (with new emphasis pulse oscillometry) useful diagnose obstructive ventilatory impairment, be used follow patients, after therapeutics implementation. Diagnosis difficult absence specific tools, especially because there large number diagnoses, particular diseases. Nuclear help detection metabolic activity cartilages, sharpen final diagnosis. The prognosis has improved, thanks upgraded interventional bronchoscopy techniques, development immunosuppressant including targeted therapies, such as tumor necrosis factor-α (TNF-α) inhibitors, offering patients several treatment options, addition supportive care.

Language: Английский

Citations

0
Developing Efficient Predictive Models for the Diagnosis of Vexas Syndrome DOI
Daniel Montes,

Andrew C. Hanson,

Hannah E. Langenfeld

et al.

Published: Jan. 1, 2025

Language: Английский

Citations

0