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Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.

Rheumatology (Oxford, England) - 3 May 2024

Wu Bingxuan, Luo Yi, Wu Di, Wang Yi, Shen Min

Abstract excerpt

OBJECTIVES: Nucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant systemic autoinflammatory disease. We aimed to summarize the phenotypic and genotypic features of Chinese adult NLRP3-AID patients with hearing loss. METHODS: A retrospective cohort study of twenty-one adult patients with NLRP3-AID was...

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Source

Identifiers

PMID: 37656934
DOI: 10.1093/rheumatology/kead451

Genes

NLRP3
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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