AUTOINFLAMMATORY DISEASES IN HEMATOLOGY FROM DIAGNOSIS TO TREATMENT

AUTOINFLAMMATORY_DISEASES_IN_HEMATOLOGY_FROM_DIAGNOSIS_TO_TREATMENTkapak

VEXAS SYNDROME

Meral Uluköylü Mengüç

İstanbul Marmara University, Faculty of Medicine, Pendik Training and Research Hospital, Department of Hematology, İstanbul, Türkiye

Uluköylü Mengüç M. VEXAS Syndrome. In: Kurt Yüksel M, editor. Autoinflammatory Diseases in Hematology from Diagnosis to Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.41-50.

ABSTRACT

VEXAS syndrome is a hematoinflammatory syndrome first described by Beck et al. in 2020. Although the clinical picture is quite heterogeneous, vacuolinization in bone marrow precursors, increase in E1 enzyme in ubiquitination, X-linked transition, autoinflammatory syndrome and somatic UBA-1 mutation are among the common features that give the disease its name. Myelodysplastic syndrome or plasma cell dyscrasias have been most frequently reported as the hematological condition accompanying treatment-resistant autoinflammatory disease. The disease, which is a relatively novel defined entity, does not yet have a gold standard treatment. Considering the pathophysiology, cytokine-targeting treatments or clonality-targeting modalities are the most accepted approaches, although they are not yet supported by prospective randomized studies.

Keywords: Inflammation-somatic hypermutation; Immunoglobulin

Referanslar

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