Behcet's disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome

Letter Hematology

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

James A. Poulter et al.

BLOOD (2021)

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 Oncology

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

Huijun Huang et al.

Summary: VEXAS syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. Patients with characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation to identify potential cases of VEXAS syndrome.

EXPERIMENTAL HEMATOLOGY & ONCOLOGY (2021)

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Letter Rheumatology