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Article Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid-lineage progenitors. Sensitive markers include macrocytic anemia, vacuolization of bone marrow precursors, and myelodysplasia. Here, we report the first case of VEXAS syndrome presenting with neutrophilic dermatosis and a serum monoclonal component, without myeloid-lineage hematologic abnormalities atonset. This case underscores the importance of including VEXAS syndrome in the differential diagnosis when monoclonal gammopathy is associated with rheuamtologic features, particularly in older patients presenting with unexplained cutaneous inflammatory manifestations and a serum clonal component, as such presentations may precede the development of classical hematologic abnormalities.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12125272PMC
http://dx.doi.org/10.1002/acr2.70064DOI Listing

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VEXAS syndrome is a rare disorder marked by systemic inflammation and blood disorders, caused by somatic mutations in the gene of hematopoietic stem cells. Ocular manifestations are common in VEXAS syndrome. This study reports a 63-year-old male presenting with recurrent periorbital and orbital inflammation, dacryoadenitis, and orbital myositis.

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Infections are increasingly recognised as a major cause of morbidity and mortality in patients with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. We conducted a systematic review to characterise the infectious burden of VEXAS syndrome and propose preventive strategies. We included 57 studies (813 patients) showing that infections in patients with VEXAS syndrome were frequent, severe in 40-60% of cases, and fatal in 6-15% of cases.

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Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic (VEXAS) syndrome is a newly identified disorder caused by an acquired monogenic somatic UBA1 gene mutation, affecting nuclear and cytoplasmic ubiquitination. This mutation triggers immune dysregulation, leading to diverse clinical and pathological features resembling inflammatory rheumatic diseases. Blood abnormalities stem from myeloid precursor dysfunction, presenting as elevated concentrations of inflammatory markers and cytokines, leukopenia, and macrocytosis.

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