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Article

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7.

Journal of clinical immunology - 1 Jan 2022

Caseley Emily A, Lara-Reyna Samuel, Poulter James A, Topping Joanne, Carter Clive, Nadat Fatima, Spickett Gavin P, Savic Sinisa, McDermott Michael F

Abstract excerpt

The NLRP3 inflammasome is a vital mediator of innate immune responses. There are numerous NLRP3 mutations that cause NLRP3-associated autoinflammatory diseases (NLRP3-AIDs), mostly in or around the NACHT domain. Here, we present a patient with a rare leucine-rich repeat (LRR) domain mutation, p.Arg920Gln (p.R920Q), associated with an atypical NLRP3-AID with recurrent episodes of sore throat and extensive...

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Identifiers

PMID: 34671876
DOI: 10.1007/s10875-021-01161-w
PMCID: PMC8528658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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