Beck et al reported the clinical features of VEXA syndrome associated with somatic mutations in UBA1. The authors are from multiple institutions in the United States and England.
VEXAS is an acronym for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.
Chromosome: Xp11.3
Gene: UBA1 (ubiquitin like modifier activating enzyme 1)
Onset: adult
Clinical features:
(1) alveolitis
(2) ear and nose chondritis
(3) skin lesions due to neutrophilic dermatosis and/or cutaneous vasculitis
(4) thromboembolic disease
Laboratory features:
(1) macrocytic anemia
(2) thrombocytopenia
(3) myeloid dyspoiesis/dysplasia
(4) vacuolization of myeloid and erythroid precursors
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