VEXAS syndrome: An inflammatory and hematologic disease

Letter Hematology

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 Hematology

Frequency and perturbations of various peripheral blood cell populations before and after eculizumab treatment in paroxysmal nocturnal hemoglobinuria

Carmelo Gurnari et al.

Summary: Platelets and reticulocytes are less sensitive to complement-mediated lysis compared to RBCs but not as resistant as granulocytes. After anti-complement treatment, there is a significant increase in reticulocytes, platelets, RBCs, and granulocytes, supporting the role of PNH hematopoiesis in the context of therapy. Additionally, the study established correlations between sensitivity of PNH cell-types and thrombosis.

BLOOD CELLS MOLECULES AND DISEASES (2021)

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Letter Rheumatology

A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia

Shang Ming Samuel Lee 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 Rheumatology

Somatic Mutation in UBA1 and ANCA-associated Vasculitis

Carolyn Ross et al.

JOURNAL OF RHEUMATOLOGY (2021)

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Article Biochemistry & Molecular Biology

HIV is associated with an increased risk of age-related clonal hematopoiesis among older adults

Nila J. Dharan et al.

Summary: People with HIV have a higher prevalence of clonal hematopoiesis (CH) compared to those without HIV, suggesting a selective advantage for CH emergence in the context of chronic infection and inflammation related to HIV infection. The most common mutated genes in this context were DNMT3A, TET2, and ASXL1. CH and HIV infection were independently associated with increases in blood parameters and biomarkers associated with inflammation.

NATURE MEDICINE (2021)

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Review Medicine, General & Internal

Somatic Mutations in Benign Disease

Satu Mustjoki et al.

Summary: DNA mutations occur in nearly every tissue throughout human life. If a mutated clone gains competitive advantage, clonal dominance may emerge, leading to functional consequences and disease.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Letter Rheumatology

Atypical splice-site mutations causing VEXAS syndrome

Marie Temple et al.

RHEUMATOLOGY (2021)

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Letter Medicine, General & Internal

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

Jean-Benoit Arlet et al.

Summary: The authors report the occurrence of the VEXAS syndrome in two female patients, which was previously described exclusively in male patients. An 87-year-old woman presented with relapsing polychondritis, prolonged fever, and myelodysplastic syndrome.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Letter Hematology