4.7 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

David B. Beck et al.

Summary: The study aims to determine the prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome using a genomic ascertainment approach. The results show a high prevalence of pathogenic UBA1 variants in the studied population, with broad clinical manifestations.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2023)

Article Rheumatology

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

Blanka Stiburkova et al.

Summary: This study reports a case of a European ancestry patient with clinical manifestations of VEXAS syndrome associated with a newly identified dysfunctional UBA-1 enzyme variant. Due to the patient's insufficient response to various immunosuppressive treatments, allogeneic hematopoietic stem cell transplantation was performed, which resulted in significant improvement of clinical and laboratory manifestations of the disease.

ARTHRITIS & RHEUMATOLOGY (2023)

Article Dermatology

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients

S. Georgin-Lavialle et al.

Summary: VEXAS syndrome is a newly described autoinflammatory syndrome associated with somatic mutations of UBA1. It presents a wide range of clinical features, with different prognostic profiles identified, and the UBA1 p.Met41Leu mutation is associated with a better prognosis.

BRITISH JOURNAL OF DERMATOLOGY (2022)

Article Hematology

Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience

Ava Diarra et al.

Summary: VEXAS syndrome is caused by somatic mutations in the UBA1 gene. Patients with VEXAS syndrome often display late-onset autoinflammatory symptoms and hematologic abnormalities. Allogeneic hematopoietic stem cell transplantation (ASCT) has shown promising outcomes in some patients, but further clinical trials are needed to determine its efficacy and place in the treatment arsenal for VEXAS syndrome.

BLOOD ADVANCES (2022)

Letter Hematology

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

James A. Poulter et al.

Article Rheumatology

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Naomi Tsuchida et al.

Summary: This study investigated the clinical and genetic features of 14 patients with RP, revealing a high prevalence of UBA1 variants in male patients and their association with skin lesions. Additionally, the first somatic UBA1 variant in a female patient was reported here.

ANNALS OF THE RHEUMATIC DISEASES (2021)

Article Rheumatology

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

Marcela A. Ferrada et al.

Summary: Somatic mutations in UBA1 have been identified in a subset of patients with relapsing polychondritis (RP), leading to a newly defined syndrome called VEXAS-RP. Patients with VEXAS-RP have distinct clinical and immunologic features, including a male predominance, onset in midlife or later, specific symptoms, and higher mortality compared to typical RP patients. Early identification and intervention are important in managing VEXAS-RP due to its associated higher mortality rate.

ARTHRITIS & RHEUMATOLOGY (2021)

Article Medicine, General & Internal

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

David B. Beck et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Review Hematology

Hemophagocytic syndromes - An update

Gritta E. Janka et al.

BLOOD REVIEWS (2014)