VEXAS syndrome
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
Clonal haematopoiesis and dysregulation of the immune system
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
[HTML][HTML] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
DB Beck, MA Ferrada, KA Sikora… - … England Journal of …, 2020 - Mass Medical Soc
Background Adult-onset inflammatory syndromes often manifest with overlap** clinical
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
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 …
reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked …
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome | Blood | American Society of
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An update on VEXAS syndrome
A Al-Hakim, S Savic - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
A Phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune/inflammatory disorders and VEXAS syndrome associated with MDS …
Systemic autoimmune and inflammatory disorders (SAID) are underestimated, and
potentially life-threatening complications observed in 15-25% of myelodysplastic neoplasms …
potentially life-threatening complications observed in 15-25% of myelodysplastic neoplasms …
Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies
M Sakuma, P Blombery, M Meggendorfer, C Haferlach… - Leukemia, 2023 - nature.com
UBA1 is an X-linked gene and encodes an ubiquitin-activating enzyme. Three somatic
mutations altering the alternative start codon (M41) in UBA1 in hematopoietic precursor cells …
mutations altering the alternative start codon (M41) in UBA1 in hematopoietic precursor cells …
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
Summary VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …
Relapsing polychondritis can be characterized by three different clinical phenotypes: analysis of a recent series of 142 patients
J Dion, N Costedoat‐Chalumeau, D Sène… - Arthritis & …, 2016 - Wiley Online Library
Objective Relapsing polychondritis (RP) is a rare condition characterized by recurrent
inflammation of cartilaginous tissue and systemic manifestations. Data on this disease …
inflammation of cartilaginous tissue and systemic manifestations. Data on this disease …