Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associated to Ménière's disease.

Abstract excerpt

Introduction: Ménière's disease (MD) is an inner ear disorder characterised by tinnitus, sensorineural hearing loss and dizziness, although around 60% of patients also exhibit and immune dysregulation. Transcriptomic studies have identified three distinct immune phenotypes in MD, classified based on systemic inflammation, cytokine profiles and association to autoinflammatory/autoimmune comorbidities. Furthermore,...

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