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Article

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.

Pediatric dermatology - 1 Sept 2016

Naz Villalba Elena, Gomez de la Fuente Enrique, Caro Gutierrez Dolores, Pinedo Moraleda Fernando, Yanguela Rodilla Julio, Mazagatos Angulo Diana, López Estebaranz Jose Luis

Abstract excerpt

Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is...

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Identifiers

PMID: 27435956
DOI: 10.1111/pde.12905

Genes

NLRP3

Variants

Provenance

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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