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About 23 results

VEXAS: a vivid new syndrome associated with vacuoles in var...
https://doi.org/10.1182/blood.2021010714
Blood Lytle A, Bagg A

Jul 2nd, 2021 - VEXAS: a vivid new syndrome associated with vacuoles in various hematopoietic cells.|2021|Lytle A,Bagg A,|

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to ...
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 ...

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 t...

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847551
The New England Journal of Medicine; Beck DB, Ferrada MA et. al.

Oct 28th, 2020 - Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin-related genes. Sanger sequencing, im...

An update on VEXAS syndrome.
https://doi.org/10.1080/1744666X.2023.2157262
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 triggere...

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 an...

Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS sy...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945317
Blood Advances; Diarra A, Duployez N et. al.

Oct 30th, 2021 - The recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS syndrome display late-onset autoinflammatory symptoms, usually refractory to treatment, and hematologic abnormalities. The identification of an easily-accessible specific marker (UBA1 mutations) is of part...

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 l...

Inflammatory diseases in hematology: a review.
https://doi.org/10.1152/ajpcell.00356.2021
American Journal of Physiology. Cell Physiology; Henrie R, Cherniawsky H et. al.

Aug 9th, 2022 - Hematopoietic cells are instrumental in generating and propagating protective inflammatory responses to infection or injury. However, excessive inflammation contributes to many diseases of the blood, bone marrow, and lymphatic system. We review three clinical categories of hematological inflammatory diseases in which recent clinical and translational advances have been made. The first ca...