Article

From bedside to bench and back: discovery of a novel missense variant in NLRP3 causing atypical CAPS with hearing loss as the primary presentation, responsive to anti-IL-1 therapy

2023-05-09

Abstract excerpt

<h4>ABSTRACT</h4> Cryopyrin-associated periodic syndromes (CAPS) also known as NLRP3-associated auto-inflammatory diseases, are a spectrum of rare auto-inflammatory diseases caused by gain-of-function mutations in the NLRP3 gene, resulting in inflammasome hyper-activation and dysregulated release of Interleukin-1 β (IL-1 β ). Many patients with CAPS develop progressive sensorineural hearing loss (SNHL) due to coch...

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Literature Corpus work: 5de6d855-6bf4-55ae-a983-7e69c0e334db
DOI: 10.1101/2023.05.05.23289337

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