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 ...
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,|analysis,diagnosis,etiology,diagnosis,etiology,diagnosis,etiology,blood,diagnosis,genetics,physiopathology,diagnosis,pathology,diagnosis,etiology,genetics,
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 – ...
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...
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...
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,
Nature Reviews. Rheumatology; Onuora S
Dec 3rd, 2020 - Somatic mutations cause VEXAS syndrome.|2020|Onuora S,|
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,|
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 , after four years of symptoms. He had suffered from recurrent fever after the onset of systemic arthralgia, scleritis, periorbital/orbital inflammation, optic perineuritis (A...
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,|
Expert Review of Clinical Immunology; Al-Hakim A, Savic S
Dec 21st, 2022 - VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations in the UBA1 gene. The various clinical manifestations of VEXAS broadly divided into inflammatory or haematological. VEXAS defines a new disease category - the hematoinflammatory disorders triggered by somatic mutations restricted t...
Dec 9th, 2022 - First described in 2020 by researchers from the US National Institutes of Health (NIH), VEXAS syndrome is a systemic autoinflammatory disease of undefined origin. Its name is an acronym: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. The prevalence of this syndrome is unknown, but it is not so rare. As it is an X-linked disease, men are predominantly affected. First Identifica...
Jan 24th, 2023 - VEXAS syndrome, a newly discovered inflammatory disease that has rheumatologic and hematologic features caused by mutations in the UBA1 gene, may be as common as Behcet's disease or myelodysplastic syndrome (MDS), researchers reported. In an analysis of genetic data from more than 163,000 people in a large health system, 12 were found to have UBA1 mutations, and all had clinical symptoms...
Archives of Dermatological Research; Afsahi V, Christensen RE et. al.
Feb 25th, 2022 - 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 for the E1 ubiquitin activating protein. Loss of UBA1 leads to a broad range of inflammatory conditions and a clinical course often refractive t...
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...
The British Journal of Dermatology; Nicholson LT, Madigan LM
Mar 2nd, 2022 - Working towards a better understanding of VEXAS syndrome.|2022|Nicholson LT,Madigan LM,|
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...
Jan 24th, 2023 - A recently discovered inflammatory disease known as VEXAS syndrome is more common, variable, and dangerous than previously understood, according to results of a retrospective observational study of a large health care system database. The findings, published in JAMA, found that it struck 1 in 4,269 men over the age of 50 in a largely White population and caused a wide variety of symptoms.
Rheumatology (Oxford, England); Shimizu T, Ide H et. al.
Jun 21st, 2022 - VEXAS syndrome complicated with severe infection.|2022|Shimizu T,Ide H,Tsuji Y,Koga T,Kawakami A,|
Arthritis & Rheumatology (Hoboken, N.J.); Grayson PC, Beck DB et. al.
Jun 14th, 2022 - VEXAS Syndrome and Disease Taxonomy in Rheumatology.|2022|Grayson PC,Beck DB,Ferrada MA,Nigrovic PA,Kastner DL,|