Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.M41L
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UBA1

NM_003334.4:p.M41L

Associated Papers

Genome Instability and Somatic Mutagenesis in Autoimmune Diseases.

Vijayraghavan S et al.

Cancers, 2026

Disease Trajectories and Glucocorticoid Exposure in VEXAS Syndrome Treated with Cytokine-Directed Therapies.

Turturice BA et al.

Annals of the Rheumatic Diseases, 2026

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review.

Hoff FW et al.

British Journal of Haematology, 2026

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.

Groarke EM et al.

Lancet (london, England), 2026

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.

Fiumara M et al.

Current Opinion in Rheumatology, 2026

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.

Martinez Rodriguez A et al.

British Journal of Haematology, 2026

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.

Anderson M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2026

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.

Sakuma M et al.

Leukemia, 2025

Primary CD34+ cells of patients with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome are highly sensitive to targeted treatment with TAK-243.

Nowak D et al.

British Journal of Haematology, 2025

UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice.

Dong G et al.

The Journal of Clinical Investigation, 2025

Characterizing VEXAS syndrome in women: Findings from an international multicenter study.

Bourguiba R et al.

Journal of Internal Medicine, 2025

Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.

Lin K et al.

Clinical Reviews in Allergy & Immunology, 2025

Developing efficient predictive models for the diagnosis of VEXAS syndrome.

Montes D et al.

Seminars in Arthritis and Rheumatism, 2025

VEXAS syndrome and immune-mediated rheumatic diseases: overlaps in clinical features and mechanisms.

Kaul A et al.

The Lancet. Rheumatology, 2025

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 2025

Emerging insights into mosaic errors of immunity.

Roosens W et al.

Trends in Immunology, 2025

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis.

Tang Y et al.

Genes & Diseases, 2025

Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure.

Zaimoku Y et al.

Clinical and Experimental Medicine, 2025

Ocular Features of VEXAS Syndrome: A Systematic Review and Meta-analysis.

Quigley C et al.

American Journal of Ophthalmology, 2025

VEXAS syndrome with eosinophilia and pathologically mimicking histiocytosis: a case report.

Murai Y et al.

Modern Rheumatology Case Reports, 2025

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.

Fiumara M et al.

Expert Review of Hematology, 2025

Kidney involvement in VEXAS syndrome: insights from a rare case of secondary amyloidosis and systematic review of renal biopsy-confirmed reports.

Ştefan G et al.

Clinical Rheumatology, 2025

Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry.

Kirino Y et al.

Rheumatology (oxford, England), 2025

VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

García-Escudero P et al.

Rheumatology (oxford, England), 2025

Therapeutic Challenges in the Management of VEXAS Syndrome: A Case Report.

Kelly G et al.

The Australasian Journal of Dermatology, 2025

Mechanisms of hematopoietic clonal dominance in VEXAS syndrome.

Molteni R et al.

Nature Medicine, 2025

Rapid Screening and Monitoring of UBA1 Mutations in VEXAS Syndrome.

Martín Castillo I et al.

The Journal of Molecular Diagnostics : Jmd, 2025

VEXAS syndrome: A newly identified X-Linked hematoinflammatory disorder - A comprehensive overview of its genetic, molecular, inflammatory, and clinical landscape.

Singh A et al.

Journal of Autoimmunity, 2025

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome.

Mizumaki H et al.

Nature Communications, 2025

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Altered IgG4 serum levels in VEXAS syndrome - a retrospective monocentric cohort study.

Saur SJ et al.

Rheumatology International, 2025

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases.

Mizes A et al.

Jaad Case Reports, 2025

[VEXAS- NEWLY REPORTED SYNDROME WITH OCULAR MANIFESTATIONS: CASE REPORT].

Abumanhal M et al.

Harefuah, 2025

Treatment experiences with focus on IL-6R inhibition in patients with VEXAS syndrome and a case of remission with azacytidine treatment.

Johansen MM et al.

Rheumatology (oxford, England), 2025

Neurological manifestations in patients with VEXAS syndrome.

Bert-Marcaz C et al.

Journal of Neurology, 2025

Novel use of Siltuximab in a patient with VEXAS Syndrome.

Cáceres-Nazario B et al.

Annals of Hematology, 2025

VEXAS Syndrome: Histiocytoid Cells With Feathery Cytoplasm as a Clue to the Diagnosis.

Ko CJ et al.

Journal of Cutaneous Pathology, 2025

Concurrent inhibited erythropoiesis in a case of VEXAS syndrome.

Xing L et al.

Annals of Hematology, 2025

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome: A Diagnostic and Therapeutic Conundrum.

Miranda S et al.

Cureus, 2025

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.

Perez SM et al.

Journal of Developmental Biology, 2025

A Japanese case of VEXAS syndrome after COVID-19 vaccination: Comparison with previously reported cases.

Miyagi Y et al.

Modern Rheumatology Case Reports, 2025

VEXAS syndrome: an adult-onset autoinflammatory disorder with underlying somatic mutation.

Kötter I et al.

Current Opinion in Rheumatology, 2025

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.

Gurnari C et al.

British Journal of Haematology, 2025

VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.

Costa A et al.

Annals of Hematology, 2025

Efficacy and safety of conventional disease-modifying antirheumatic drugs in VEXAS syndrome: real-world data from the international AIDA network.

Vitale A et al.

Frontiers in Pharmacology, 2025

Vexas Syndrome in a Moroccan Patient: The Story of a Two-Year Diagnostic Lag.

Allaoui A et al.

European Journal of Case Reports in Internal Medicine, 2025

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