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Article
Medicine, General & Internal
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
Dermatology
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)
Review
Rheumatology
Keith A. Sikora et al.
Summary: The discovery of VEXAS syndrome highlights the relationship between somatic mutations and adult-onset, complex inflammatory diseases. Unlike germline mutations, somatic mutations occur throughout life, are restricted to specific tissue types, and may play a causal role in non-heritable rheumatological diseases. Advances in sequencing technology enable the detection of somatic mutations in various tissue types, providing insights into the relationship between acquired mutations and inflammation in rheumatological diseases.
Article
Medicine, General & Internal
Antonio Vitale et al.
Summary: This paper presents an international registry for VEXAS syndrome, designed to collect real-life data and provide real-world evidence for daily clinical practice, potentially enhancing international collaboration and data sharing.
FRONTIERS IN MEDICINE
(2022)
Review
Medicine, General & Internal
Jose Hernondez-Rodriguez et al.
Summary: VEXAS syndrome is an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. It mainly affects adult males and is characterized by recurrent fever, joint pain, ear/nose chondritis, skin dermatosis, and bone marrow abnormalities. Glucocorticoids are effective in treating the syndrome, but other immunosuppressive drugs have limited efficacy. Allogeneic hematopoietic stem cell transplantation may be the only curative therapy.
Article
Hematology
Peter C. Grayson et al.
Summary: VEXAS syndrome is a monogenic disease of adulthood caused by somatic mutations in UBA1, resulting in inflammatory and hematologic symptoms. Novel UBA1 genetic variants and treatment options were discussed in the recent issue of Blood, shedding light on disease pathophysiology. VEXAS syndrome serves as a prototype for a new class of diseases.
Article
Rheumatology
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
Rheumatology
Sirada Panupattanapong et al.
ARTHRITIS & RHEUMATOLOGY
(2018)
