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Article

Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.

JCI insight - 9 Mar 2026

Snouwaert John N, Nguyen MyTrang, Gabel Christopher A, Aksentijevich Ivona, Ting Jenny P-Y, Koller Beverly H

Abstract excerpt

Next-generation sequencing technologies are increasingly used to diagnose genetic disorders, particularly immunological diseases with broad and overlapping immune dysregulation. Cryopyrin-associated periodic syndromes (CAPS) are caused by gain-of-function mutations in NLRP3 and include 3 autoinflammatory diseases spanning a continuum of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells...

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Share to Cryopyrin-Associated Periodic Syndromes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NLR Family, Pyrin Domain-Containing 3 Protein

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Source

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Identifiers

PMID: 41797712
DOI: 10.1172/jci.insight.194677
PMCID: PMC13041679

Genes

NLRP3
CAPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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