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 …
Comparison of the International Consensus and 5th WHO edition classifications of adult myelodysplastic syndromes and acute myeloid leukemia
B Falini, MP Martelli - American Journal of Hematology, 2023 - Wiley Online Library
Several editions of the World Health Organization (WHO) classifications of lympho‐
hemopoietic neoplasms in 2001, 2008, and 2016 served as the international standard for …
hemopoietic neoplasms in 2001, 2008, and 2016 served as the international standard for …
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
Importance VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory,
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
Spectrum of clonal hematopoiesis in VEXAS syndrome
F Gutierrez-Rodrigues, Y Kusne… - Blood, The Journal …, 2023 - ashpublications.org
Abstract Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …
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 …
Clonal hematopoiesis, inflammation, and hematologic malignancy
R Kanagal-Shamanna, DB Beck… - Annual Review of …, 2024 - annualreviews.org
Somatic or acquired mutations are postzygotic genetic variations that can occur within any
tissue. These mutations accumulate during aging and have classically been linked to …
tissue. These mutations accumulate during aging and have classically been linked to …
VEXAS syndrome: clinical, hematologic features and a practical approach to diagnosis and management
MJ Koster, TL Lasho, H Olteanu… - American journal of …, 2024 - Wiley Online Library
Abstract VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a
newly identified disease caused by somatic alterations in UBA1 which produce a recalcitrant …
newly identified disease caused by somatic alterations in UBA1 which produce a recalcitrant …
Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome-UK experience
A Al-Hakim, JA Poulter, D Mahmoud… - British journal of …, 2022 - eprints.whiterose.ac.uk
Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome - UK experience
Page 1 This is a repository copy of Allogeneic hematopoietic stem cell transplantation for …
Page 1 This is a repository copy of Allogeneic hematopoietic stem cell transplantation for …
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases
A Vitale, V Caggiano, A Bimonte, F Caroni… - Internal and Emergency …, 2023 - Springer
Abstract VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a
recently described pathological entity. It is an acquired monogenic autoinflammatory …
recently described pathological entity. It is an acquired monogenic autoinflammatory …
Update on VEXAS and role of allogeneic bone marrow transplant: considerations on behalf of the Chronic Malignancies Working Party of the EBMT
C Gurnari, DP McLornan - Bone Marrow Transplantation, 2022 - nature.com
VEXAS (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a
fascinating new entity encompassing a variety of clinical manifestations, spanning from auto …
fascinating new entity encompassing a variety of clinical manifestations, spanning from auto …