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Article

A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.

Clinical immunology (Orlando, Fla.) - 1 Mar 2015

Rieber Nikolaus, Gavrilov Alina, Hofer Laura, Singh Anurag, Öz Hasan, Endres Theresa, Schäfer Iris, Handgretinger Rupert, Hartl Dominik, Kuemmerle-Deschner Jasmin

Abstract excerpt

Cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation caused by mutations in the NLRP3 gene. Besides confirmed pathogenic NLRP3 mutations, patients with CAPS-like symptoms frequently show low penetrance variants in NLRP3. The disease relev...

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Source

Identifiers

PMID: 25596455
DOI: 10.1016/j.clim.2015.01.003

Genes

NLRP3
CAPS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25596455-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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