Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.N39_G40Splc
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UBA1

NM_003334.4:p.N39_G40Splc

Associated Papers

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

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

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

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.

Rana G et al.

Rheumatology International, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

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

Quigley C et al.

American Journal of Ophthalmology, 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

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

40394087 (PubMed )
Supplement: 41467_2025_59890_MOESM3_ESM.xlsx › Table_S1

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

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

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature.

Alnahas Z et al.

Open Access Rheumatology : Research and Reviews, 2025

VEXAS: A review of current understandings and emerging treatment strategies.

Holden R et al.

Frontiers in Immunology, 2025

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement.

Fang Z et al.

Frontiers in Immunology, 2025

VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy.

Bindoli S et al.

Frontiers in Immunology, 2025

Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients.

Ali SB et al.

Clinical Rheumatology, 2024

De-escalation of corticosteroids and clonal remission in UBA1 mutation-driven VEXAS syndrome with 5-azacytidine.

Trikha R et al.

Haematologica, 2024

The Histopathology of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome: Report of 12 Skin Biopsies From 6 Patients.

Brumbaugh BJ et al.

The American Journal of Dermatopathology, 2024

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront.

Li XX et al.

Molecular Medicine (cambridge, Mass.), 2024

A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report.

Berger M et al.

Journal of Medical Case Reports, 2024

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

Maeda A et al.

Rheumatology (oxford, England), 2024

Clinical and histological features of histiocytoid Sweet syndrome associated with VEXAS syndrome.

Lecoeuvre H et al.

Clinical and Experimental Dermatology, 2024

How I diagnose and manage VEXAS syndrome.

Hagiya A et al.

American Journal of Clinical Pathology, 2024

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.

Kouranloo K et al.

Rheumatology International, 2024

VEXAS syndrome: A new mimicker of idiopathic multicentric Castleman disease.

Philip R et al.

Joint Bone Spine, 2024

Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients.

Olteanu H et al.

American Journal of Clinical Pathology, 2024

VEXAS syndrome: a Swiss national retrospective cohort study.

Wolff L et al.

Swiss Medical Weekly, 2024

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

Saad AJ et al.

Experimental Dermatology, 2024

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome.

Ma Y et al.

Practical Laboratory Medicine, 2024

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.

Koster MJ et al.

American Journal of Hematology, 2024

Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort.

Gurnari C et al.

American Journal of Hematology, 2024

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.

Duan S et al.

Orphanet Journal of Rare Diseases, 2024

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

Loeza-Uribe MP et al.

Reumatologia Clinica, 2024

Targeting enhanced cell death represents a potential therapeutic strategy for VEXAS syndrome.

Adachi S et al.

Rheumatology Advances in Practice, 2024

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.

Baggio C et al.

Frontiers in Immunology, 2024

39421750 (PubMed )
Supplement: Table1.docx

Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report.

Miyoshi Y et al.

Modern Rheumatology Case Reports, 2023

Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome.

Hines AS et al.

Rheumatology (oxford, England), 2023

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.

Mascaro JM et al.

Annals of the Rheumatic Diseases, 2023

VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.

Baur V et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.

Kunimoto H et al.

International Journal of Hematology, 2023

VEXAS Syndrome-Review.

Zhang Y et al.

Global Medical Genetics, 2023

Reduced intensity conditioning allogeneic hematopoietic stem cell transplantation in VEXAS syndrome: Data from a prospective series of patients.

Mangaonkar AA et al.

American Journal of Hematology, 2023

VEXAS syndrome.

Uchino K et al.

International Journal of Hematology, 2022

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