VEXAS syndrome

an adult-onset severe autoinflammatory disease associated with diffuse inflammation, predisposition to HEMATOLOGIC NEOPLASMS and THROMBOSIS. It is due to somatic mutations in the UBA1 PROTEIN, HUMAN gene.

Also Known As:

Networked: 145 relevant articles (8 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	VEXAS syndrome
2.	Macrocytic Anemia
3.	Granulomatosis with Polyangiitis (Wegener's Granulomatosis)
4.	Anemia
5.	Inflammation (Inflammations)

Experts

1.	Beck, David B: 11 articles (01/2022 - 12/2020)
2.	Grayson, Peter C: 8 articles (01/2022 - 12/2020)
3.	Koster, Matthew J: 5 articles (03/2022 - 10/2021)
4.	Warrington, Kenneth J: 5 articles (03/2022 - 10/2021)
5.	Calvo, Katherine R: 5 articles (01/2022 - 12/2020)
6.	Ferrada, Marcela A: 5 articles (01/2022 - 12/2020)
7.	Patel, Bhavisha A: 5 articles (01/2022 - 01/2021)
8.	Young, Neal S: 5 articles (01/2022 - 12/2020)
9.	Groarke, Emma M: 5 articles (10/2021 - 12/2020)
10.	Fenaux, Pierre: 4 articles (01/2022 - 11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to VEXAS syndrome:

1.	Janus Kinase InhibitorsIBA 01/01/2023 - "However, recently described cohorts of subjects with VEXAS treated with Janus kinase inhibitors (JAK-I) proved that these drugs can be effective in the treatment of several manifestations related to the disease. " 01/01/2023 - "JAK inhibitors for the treatment of VEXAS syndrome." 01/01/2023 - "Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. " 01/01/2022 - "Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study." 09/27/2022 - "Genetic testing established the diagnosis of VEXAS syndrome and tofacitinib, a JAK inhibitor, was commenced with resolution of inflammatory symptoms."
2.	ruxolitinibIBA 01/01/2022 - "Ruxolitinib takes center stage for VEXAS syndrome." 01/01/2023 - "Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. " 01/01/2022 - "Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study."
3.	Azacitidine (5 Azacytidine)FDA Link 01/01/2022 - "Clinical response of VEXAS to azacitidine was achieved in five patients (46%), during 6, 8+, 12, 21, 27+ months respectively, suggesting that azacitidine can be effective in selected patients with VEXAS and associated MDS." 06/01/2023 - "Furthermore, azacitidine may be a good treatment option for systemic autoinflammation in MDS associated with VEXAS syndrome." 12/01/2022 - "Azacitidine, a therapeutic option in Lewis and Sumner syndrome associated with VEXAS syndrome." 06/01/2022 - "Clinical, Morphological and Clonal Progression of VEXAS Syndrome in the Context of Myelodysplasia Treated with Azacytidine." 01/01/2022 - "Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis."
4.	SteroidsIBA 11/01/2022 - "However, no treatment guidelines have been validated to date, VEXAS patients are typically steroid-dependent and may manifest life-threatening inflammatory symptoms refractory to multiple lines of therapy. " 07/10/2023 - "VEXAS should be in the differential in patients with symptoms of chronic inflammation responding positively to steroids (but not to B-cell depletion or TNF inhibition), which is in line with previous literature." 01/01/2022 - "The glucocorticoids use, and the number of steroid sparing agents were similar in both groups, but patients with VEXAS-RP had more frequent refractory disease (remission obtained in 27% vs 90%, p<0001). " 11/01/2022 - "A Phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune/inflammatory disorders and VEXAS syndrome associated with MDS and CMML."
5.	GlucocorticoidsIBA 11/01/2022 - "A diagnosis of VEXAS should be considered in male patients with incomplete or complete features of the previously described conditions, refractory to treatment, requiring high-dose glucocorticoids, and associated progressive hematologic abnormalities. " 01/01/2023 - "The pulmonary manifestations in VEXAS are relatively nonspecific and nonsevere, occur in the context of systemic inflammation and are responsive to escalation in glucocorticoid dosing." 01/01/2022 - "The glucocorticoids use, and the number of steroid sparing agents were similar in both groups, but patients with VEXAS-RP had more frequent refractory disease (remission obtained in 27% vs 90%, p<0001). " 01/01/2022 - "We previously reported the results of short-term treatment with tocilizumab (TCZ) and glucocorticoids in three patients with VEXAS syndrome. "
6.	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/01/2022 - "Successful use of cyclosporin A and interleukin-1 blocker combination therapy in VEXAS syndrome: a single-center case series." 10/01/2023 - "Notably, 4 out of 7 cases showed significant improvement of anemia by treatment with prednisolone (PSL) or cyclosporin A (CsA), suggesting that an underlying inflammatory milieu induced by VEXAS syndrome may aggravate macrocytic anemia in VEXAS-associated MDS. "
7.	Prednisolone (Predate)FDA LinkGeneric 10/01/2023 - "Notably, 4 out of 7 cases showed significant improvement of anemia by treatment with prednisolone (PSL) or cyclosporin A (CsA), suggesting that an underlying inflammatory milieu induced by VEXAS syndrome may aggravate macrocytic anemia in VEXAS-associated MDS. "
8.	Methotrexate (Mexate)FDA LinkGeneric 10/04/2023 - "VEXAS syndrome with granulomatosis with polyangiitis manifestation: retained in remission using methotrexate and infliximab."
9.	Infliximab (Remicade)FDA Link 10/04/2023 - "VEXAS syndrome with granulomatosis with polyangiitis manifestation: retained in remission using methotrexate and infliximab."
10.	EnzymesIBA 10/01/2021 - "The objective of this study is to describe the clinical features and outcomes of patients with the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. " 12/01/2023 - "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. " 12/01/2023 - "VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) for the dermatologist." 11/12/2023 - "The acronym VEXAS stands for the characteristics Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic. " 11/12/2023 - "VEXAS syndrome is a recently identified autoinflammatory systemic disease caused by an acquired somatic mutation of the X-linked UBA1 gene, the key enzyme of the first step of ubiquitylation. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2022 - "Because in the first reported cohort of VEXAS patients the UBA1 mutation was only found in hematopoietic stem cells but not in fibroblasts, we hypothesized that bone marrow transplantation would provide a cure for the disease. "
2.	Therapeutics 11/12/2023 - "In this minireview we provide an overview of the pathophysiology, diagnosis and therapy of VEXAS syndrome and illustrate its clinical picture with two own cases." 11/13/2023 - "As skin involvement is common in AIDs and may present as the most frequent manifestation, especially in DADA2 (70% to 90%) and VEXAS syndrome (83% to 91%), dermatologists play a crucial role in contributing to the early diagnosis of these AIDs with early initiation of the appropriate therapy to avoid progressing fatal outcomes." 01/01/2023 - "Patients with VEXAS may manifest a range of features from manageable cytopenias to disabling and life-threatening autoimmune phenomena with limited responses to therapy, with the potential for progression to hematological malignancies. " 11/01/2022 - "However, no treatment guidelines have been validated to date, VEXAS patients are typically steroid-dependent and may manifest life-threatening inflammatory symptoms refractory to multiple lines of therapy. " 01/01/2022 - "VEXAS syndrome: favourable clinical and partial haematological responses to subcutaneous abatacept therapy with 30-month follow-up."
3.	Stem Cell Transplantation 12/01/2022 - "Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience." 11/01/2022 - "Case report: Up-front allogeneic stem cell transplantation in a patient with the VEXAS syndrome." 01/01/2022 - "In this case report we present two cases of VEXAS, one of which has undergone an allogeneic stem cell transplantation." 01/01/2022 - "Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report."
4.	Hematopoietic Stem Cell Transplantation 01/01/2023 - "Herein, we present the variegated manifestations of VEXAS, provide practice criteria for diagnostic testing of UBA1, and discuss potential treatment options, including allogeneic hematopoietic stem cell transplantation, current evidence, and future directions." 01/01/2023 - "Reduced intensity conditioning allogeneic hematopoietic stem cell transplantation in VEXAS syndrome: Data from a prospective series of patients." 01/01/2022 - "Here we report the case of a VEXAS patient who successfully received an allogeneic hematopoietic stem cell transplantation as a curative option." 01/01/2022 - "Here we retrospectively identified 6 patients with VEXAS syndrome who underwent allogeneic hematopoietic stem cell transplantation (ASCT). " 01/01/2022 - "Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience."
5.	Homologous Transplantation 10/01/2021 - "To date, allogeneic transplantation is the only curative option, but many questions remain regarding the selection of eligible patients, the conditioning regimen or management of toxicities that may be unique to VEXAS patients. "