☆ 4.7 Letter

Atypical splice-site mutations causing VEXAS syndrome

RHEUMATOLOGY (2021)

Therapeutic options in VEXAS syndrome: insights from a retrospective series

Estelle Bourbon et al.

BLOOD (2021)

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Letter Hematology

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

James A. Poulter et al.

BLOOD (2021)

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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)

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Letter Rheumatology

VEXAS syndrome in a woman

Thomas Barba et al.

RHEUMATOLOGY (2021)

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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)

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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)

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Atypical splice-site mutations causing VEXAS syndrome

相关参考文献

Therapeutic options in VEXAS syndrome: insights from a retrospective series

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

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

VEXAS syndrome in a woman

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

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

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