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102 search results for:

VEXAS Syndrome 

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  1. Open Access 12-01-2024 | VEXAS Syndrome | OriginalPaper

    VEXAS syndrome: complete molecular remission after hypomethylating therapy

    The VEXAS syndrome, a genetically defined autoimmune disease, associated with various hematological neoplasms has been attracting growing attention since its initial description in 2020. While various therapeutic strategies have been explored in …

  2. Open Access 01-12-2024 | VEXAS Syndrome | OriginalPaper

    Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report

    Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disorder which was newly described in December 2020. Myeloid lineage-restricted somatic mutations of the UBA1 gene affecting the Met41 residue were detected in all …

  3. 21-12-2023 | VEXAS Syndrome | Online First

    Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review

    VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory condition characterised by somatic mutation of the UBA1 gene [ 1 , 2 ]. It was first reported in 2020 and mainly affects older men. Its inflammatory …

  4. Open Access 01-12-2023 | Ophthalmoparesis | OriginalPaper

    Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

    First described by Beck et al. in 2020, VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a rare and potentially lethal disease characterized by multi-system inflammatory and or hematological disorders caused by somatic …

  5. 14-01-2023 | Myelodysplastic Syndrome | OriginalPaper

    Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome

    VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by UBA1 somatic mutations and is characterized by late-onset systemic autoimmune inflammation and blood abnormalities such as cytopenia, vacuolation of …

  6. 17-04-2023 | Myelodysplastic Syndrome | OriginalPaper

    Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome

    VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a new disease entity with autoinflammatory disorders (AID) driven by somatic variants in UBA1 that frequently co-exists with myelodysplastic syndromes (MDS).

  7. 03-09-2022 | Myelodysplastic Syndrome | Letter

    VEXAS syndrome

  8. Open Access 20-01-2023 | Myelodysplastic Syndrome | ReviewPaper

    VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases

    VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene in blood cells precursors; the …

  9. Open Access 01-12-2022 | Neutrophilic Dermatosis | Letter

    Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome

    VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients …

  10. Open Access 08-01-2023 | Vasculitis | ReviewPaper

    Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

    Vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic (VEXAS) syndrome is a recently described autoinflammatory condition [ 1 ]. First reported in 2020, it is due to somatic mutations in the UBA1 gene of myeloid cells and mainly affects older …

  11. 01-05-2022 | Myelodysplastic Syndrome | Letter

    VEXAS-like syndrome: a potential new entity?

    Despite recent discoveries regarding the UBA1 gene and its role in overlapping VEXAS syndrome, it is evident that there are cases clinically comparable to what is reported in the literature, even if they do not carry the mutation mentioned above. A …

  12. 20-08-2022 | Vasculitis | ReviewPaper

    Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review

    Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid dysplasia. The first description was reported in 2020, and subsequently …

  13. 24-02-2022 | Vasculitis | OriginalPaper

    VEXAS syndrome in dermatology

    Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes …

  14. Open Access 01-12-2021 | Myelodysplastic Syndrome | Letter

    VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

    VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 …

  15. 12-08-2022 | Myelodysplastic Syndrome | Letter

    Kikuchi Fujimoto disease as the presenting component of VEXAS syndrome: a case report of a probable association

  16. 24-11-2021 | Phlebothrombosis | BriefCommunication

    Thrombosis in VEXAS syndrome

    VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed …

  17. 01-10-2021 | Neutrophilic Dermatosis | Letter

    A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis

  18. 17-05-2022 | Giant Cell Arteritis | Letter

    The VEXAS syndrome from rheumatology perspective: genomic DNA sequencing as available blueprint for diagnosing rheumatic diseases with overlapping haematological or dermatological findings

  19. 09-04-2024 | VEXAS Syndrome | OriginalPaper

    Could it be VEXAS?

    We report the case of the youngest patient described with VEXAS syndrome associated with MDS-IB1, successfully treated with azacitidine-venetoclax and allogeneic stem cell transplant.

  20. Open Access 01-12-2024 | VEXAS Syndrome | OriginalPaper

    Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

    Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is an adult-onset autoinflammatory disease caused by somatic mutations in UBA1 (encoding ubiquitin-like modifier activating enzyme 1) [ 1 , 2 ]. Prior to detecting UBA1 …

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