Severe Joint Involvement in VEXAS Syndrome: A Case Report

Lacombe, Victor G.; Kosmider, Olivier; Prevost, M; Lavigne, Christian; Urbanski, G.

doi:10.7326/l21-0023

Cited by 27 publications

(28 citation statements)

References 2 publications

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“…Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described adult-onset inflammatory disease, 1 responsible for inflammatory and haematological disorders. 2 The presence of bone marrow vacuoles appeared to be greatly significant in the diagnosis of VEXAS syndrome. 1 However, myeloid and erythroid vacuolization has been described in other disorders: copper deficiency, 3 acute myeloid leukaemia, 4 Menk es disease 5 and transcobalamin II deficiency.…”

Section: Supporting Informationmentioning

confidence: 99%

“…1 Prospective clinical trials are lacking, therefore there is no consensus about optimal treatment, although recent surveys by the United States Childhood Oncology Group (COG) and iBFM AMBI2012 registry have established that lymphoid directed treatment is associated with superior outcomes. 1,2 This is especially the case for patients with CD19-positive B-myeloid leukaemia if they obtain a good flow or molecular minimal residual disease (MRD) response to standard acute lymphoblastic leukaemia (ALL) induction therapy. MRD monitoring in MPAL can be challenging due to the mixed phenotype (flow) and potential escape of myeloid sub-clones under selection pressure of lymphoid directed therapy, which may or may not carry clonal immunoglobulin/T-cell receptor (Ig/TCR) rearrangements (molecular).…”

Section: Blinatumomab For Paediatric Mixed Phenotype Acute Leukaemiamentioning

confidence: 99%

“…Matthieu Prevost 2,3 Anne Bouvier 2,3 Sylvain Th epot 3,4 Floris Chabrun 5,6 Olivier Kosmider 7 Carole Lacout 1 Annaelle Beucher 2,3 Christian Lavigne 1 Franck Genevi eve 2,3 Geoffrey Urbanski 1,6…”

Section: Conflict Of Interestunclassified

“…VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is a recently described adult‐onset inflammatory disease, 1 responsible for inflammatory and haematological disorders 2 . The presence of bone marrow vacuoles appeared to be greatly significant in the diagnosis of VEXAS syndrome 1 .…”

Section: Vexas Uba1‐wt Mdsmentioning

confidence: 99%

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Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

et al. 2021

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Section: Supporting Informationmentioning

confidence: 99%

Section: Blinatumomab For Paediatric Mixed Phenotype Acute Leukaemiamentioning

confidence: 99%

Section: Conflict Of Interestunclassified

Section: Vexas Uba1‐wt Mdsmentioning

confidence: 99%

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Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

et al. 2021

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“…Patients with VEXAS syndrome have multisystem inflammation involving primarily the skin, cartilage and lungs (although the clinical spectrum also includes many other disease manifestations), with onset in middle age or later 47 – 49 . VEXAS syndrome can present in a similar manner to a variety of haematological and inflammatory conditions 50 , and patients with VEXAS syndrome are likely to meet diagnostic criteria for relapsing polychondritis, systemic lupus erythematosus, rheumatoid arthritis, polyarteritis nodosa and Sweet’s syndrome, along with haematological diseases including multiple myeloma and myelodysplastic syndrome 49 .…”

Section: Uba1 E1 Enzyme Mutations and Diseasementioning

confidence: 99%

Disorders of ubiquitylation: unchained inflammation

et al. 2022

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Ubiquitylation is an essential post-translational modification that regulates intracellular signalling networks by triggering proteasomal substrate degradation, changing the activity of substrates or mediating changes in proteins that interact with substrates. Hundreds of enzymes participate in reversible ubiquitylation of proteins, some acting globally and others targeting specific proteins. Ubiquitylation is essential for innate immune responses, as it facilitates rapid regulation of inflammatory pathways, thereby ensuring sufficient but not excessive responses. A growing number of inborn errors of immunity are attributed to dysregulated ubiquitylation. These genetic disorders exhibit broad clinical manifestations, ranging from susceptibility to infection to autoinflammatory and/or autoimmune features, lymphoproliferation and propensity to malignancy. Many autoinflammatory disorders result from disruption of components of the ubiquitylation machinery and lead to overactivation of innate immune cells. An understanding of the disorders of ubiquitylation in autoinflammatory diseases could enable the development of novel management strategies.

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Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

Beaumesnil

Boucher

Lavigne

et al. 2022

JAMA Otolaryngol Head Neck Surg

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lesion at the cerebellopontine angle, and spindle cell histologic findings are suggestive of a schwannoma; however, this was ruled out by immunonegative S-100 findings. Infantile hemangioma (IH) was ruled out by the glomeruloid-like architecture of the vascular epithelial nodules, not seen in IH. 1 An additional concern with KHE is the development of KMS. Although KMS has been reported in small (<5 cm) KHEs, it is hypothesized that KMS is more likely with larger retroperitoneal and mediastinal KHEs in younger patients. 1,3 The small size of the KHE at diagnosis may have preempted development of KMS in this patient.Rapid growth and location rendered treatment necessary. Surgical intervention is typically the first-line treatment. Steroids, interferon, and vincristine have been part of the treatment regimen when resection is difficult, as in this case. 2 However, success with these agents has been limited, leading to investigation of other pharmaceuticals. Several studies support the efficacy of sirolimus in reducing tumor size and controlling hematopoietic values. 5 Sirolimus was thus chosen as the initial treatment with good early results.

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Severe Joint Involvement in VEXAS Syndrome: A Case Report

Cited by 27 publications

References 2 publications

Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

Disorders of ubiquitylation: unchained inflammation

Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

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