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About 95 results

VEXAS syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462403
Blood Grayson PC, Patel BA et. al.

May 11th, 2021 - VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments need to be ...

VEXAS syndrome in a woman.
https://doi.org/10.1093/rheumatology/keab392
Rheumatology (Oxford, England); Barba T, Jamilloux Y et. al.

May 1st, 2021 - VEXAS syndrome in a woman.|2021|Barba T,Jamilloux Y,Durel CA,Bourbon E,Mestrallet F,|

Benign and malignant hematologic manifestations in patients with VEXAS syndrome ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405186
Blood Advances; Obiorah IE, Patel BA et. al.

Aug 25th, 2021 - 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 rheumat...

VEXAS Syndrome: Implications for Dermatologists
https://www.medscape.com/viewarticle/949785

Apr 22nd, 2021 - When I was a medical student, I always found it gratifying when there was a unifying mechanism that explained the symptoms of a disease. Part of the reason I chose dermatology as a specialty was how frequently we are able to "see" these mechanisms in the skin, both clinically and histologically. VEXAS syndrome – which stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic – ...

Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.
https://doi.org/10.1016/j.mayocp.2021.06.006
Mayo Clinic Proceedings; Koster MJ, Kourelis T et. al.

Sep 8th, 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. Nine men with somatic mutations in the UBA1 gene were identified; the most frequent variant was p.Met41Thr (7 of 9, 78%). The median age at VEXAS diagnosis was 74 (67, 76.5) years, and patients had a me...

VEXAS syndrome: still expanding the clinical phenotype.
https://doi.org/10.1093/rheumatology/keab225
Rheumatology (Oxford, England); Oganesyan A, Jachiet V et. al.

Mar 12th, 2021 - VEXAS syndrome: still expanding the clinical phenotype.|2021|Oganesyan A,Jachiet V,Chasset F,Hirsch P,Hage-Sleiman M,|therapeutic use,diagnosis,drug therapy,immunology,diagnosis,drug therapy,immunology,therapeutic use,

Somatic mutations cause VEXAS syndrome.
https://doi.org/10.1038/s41584-020-00559-x
Nature Reviews. Rheumatology; Onuora S

Dec 3rd, 2020 - Somatic mutations cause VEXAS syndrome.|2020|Onuora S,|

VEXAS syndrome-related AA amyloidosis: a case report.
https://doi.org/10.1093/rheumatology/keab683
Rheumatology (Oxford, England); Euvrard R, Fournier T et. al.

Sep 10th, 2021 - VEXAS syndrome-related AA amyloidosis: a case report.|2021|Euvrard R,Fournier T,Georgescu D,Bourbon E,Sujobert P,|

Extensive multiple organ involvement in VEXAS syndrome.
https://doi.org/10.1002/art.41775
Arthritis & Rheumatology (Hoboken, N.J.); Takahashi N, Takeichi T et. al.

Apr 22nd, 2021 - A 55-year-old Japanese man was diagnosed with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations [1], after four years of symptoms. He had suffered from recurrent fever after the onset of systemic arthralgia, scleritis, periorbital/orbital inflammation, optic perineuritis (A...

Severe Joint Involvement in VEXAS Syndrome: A Case Report.
https://doi.org/10.7326/L21-0023
Annals of Internal Medicine; Lacombe V, Kosmider O et. al.

Mar 30th, 2021 - Severe Joint Involvement in VEXAS Syndrome: A Case Report.|2021|Lacombe V,Kosmider O,Prévost M,Lavigne C,Urbanski G,|

Thrombosis in VEXAS syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612112
Journal of Thrombosis and Thrombolysis; Oo TM, Koay JTJ et. al.

Nov 25th, 2021 - 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 venous thromboembolism (VTE). Review of literature of existing VEXAS syndrome cases showed a high thrombotic burden, with the repor...

Thrombotic manifestations of VEXAS syndrome.
https://doi.org/10.1053/j.seminhematol.2021.10.006
Seminars in Hematology; Groarke EM, Dulau-Florea AE et. al.

Nov 23rd, 2021 - VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory syndrome characterized by diffuse inflammatory manifestations, predisposition to hematological malignancy, and an association with a high rate of thrombosis. VEXAS is attributed to somatic mutations in the UBA1 gene in hematopoietic stem and progenitor cells with myeloid restrictio...

VEXAS syndrome: An inflammatory and hematologic disease.
https://doi.org/10.1053/j.seminhematol.2021.10.005
Seminars in Hematology; Patel BA, Ferrada MA et. al.

Nov 23rd, 2021 - VEXAS syndrome: An inflammatory and hematologic disease.|2021|Patel BA,Ferrada MA,Grayson PC,Beck DB,|

Toward a pathophysiology inspired treatment of VEXAS syndrome.
https://doi.org/10.1053/j.seminhematol.2021.09.001
Seminars in Hematology; Heiblig M, Patel BA et. al.

Nov 23rd, 2021 - VEXAS syndrome has an unmet need for therapeutic interventions. Even if few data exist regarding the treatment of this newly described syndrome, different options can be proposed given the unique pathophysiological consequences of the clonal dominance of UBA1 mutated hematopoietic stem cells. To date, allogeneic transplantation is the only curative option, but many questions remain regar...

VEXAS syndrome: Implications for dermatologists
https://www.mdedge.com/dermatology/article/238910/medical-dermatology
Karl Saardi, MD

Apr 20th, 2021 - When I was a medical student, I always found it gratifying when there was a unifying mechanism that explained the symptoms of a disease. Part of the reason I chose dermatology as a specialty was how frequently we are able to “see” these mechanisms in the skin, both clinically and histologically.

Genotype, Need for Transfusion Predict Death in VEXAS Syndrome
https://www.medscape.com/viewarticle/962555

Nov 9th, 2021 - Among patients with the recently defined severe autoinflammatory syndrome VEXAS, those who are transfusion dependent or have a specific amino acid substitution are at highest risk for death, whereas those with ear chondritis are at significantly lower risk, a multinational team of investigators has found. Auricular chondritis in a man with VEXAS. Their study of mortality and predictors of survi...

A case of VEXAS syndrome with subtle morphologic findings.
https://doi.org/10.1182/blood.2021012596
Blood Horton RK, Zheng G

Oct 15th, 2021 - A case of VEXAS syndrome with subtle morphologic findings.|2021|Horton RK,Zheng G,|

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462400
Blood Poulter JA, Collins JC et. al.

Mar 11th, 2021 - Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.|2021|Poulter JA,Collins JC,Cargo C,De Tute RM,Evans P,|

Myeloid and lymphoid vacuolation in VEXAS syndrome.
https://doi.org/10.1002/ajh.26098
American Journal of Hematology; Fan BE, Cao L et. al.

Jan 19th, 2021 - Myeloid and lymphoid vacuolation in VEXAS syndrome.|2021|Fan BE,Cao L,Gallardo CA,Lee SMS,Koh LW,|pathology,pathology,parasitology,pathology,pathology,pathology,

Clonal hematopoiesis and VEXAS syndrome: survival of the fittest clones?
https://doi.org/10.1053/j.seminhematol.2021.10.004
Seminars in Hematology; Kusne Y, Fernandez J et. al.

Nov 23rd, 2021 - Clonal hematopoiesis (CH) is defined by the acquisition of somatic mutations in hematopoietic stem cells (HSC) leading to enhanced cellular fitness and proliferation under positive clonal selection pressures. CH most frequently involves epigenetic regulator genes (DNMT3A, TET2 and ASXL1), with these mutations being associated with enhanced inflammation and increased all-cause mortality largely ...