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Article

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.

Arthritis and rheumatism - 1 Apr 2010

Jéru Isabelle, Marlin Sandrine, Le Borgne Gaëlle, Cochet Emmanuelle, Normand Sylvain, Duquesnoy Philippe, Dastot-Le Moal Florence, Cuisset Laurence, Hentgen Véronique, Fernandes Alnemri Teresa, Lecron Jean-Claude, Dhote Robin, Grateau Gilles, Alnemri Emad S, Amselem Serge

Abstract excerpt

OBJECTIVE: To gain insight into the pathophysiology of an atypical familial form of an autoinflammatory disorder, characterized by autosomal-dominant sensorineural hearing loss, systemic inflammation, increased secretion of interleukin-1beta (IL-1beta), and the absence of any cutaneous manifestations, and to assess the functional consequences of a missense mutation identified in the leucine-rich repeat (LRR)...

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Source

Identifiers

PMID: 20131254
DOI: 10.1002/art.27326

Genes

NLRP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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