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Article

A genotype-first approach reveals the molecular basis of pyrin inflammasome activation.

Science immunology - 7 Aug 2026

Iwata Naoya, Kuchitsu Yoshihiko, Hijikata Atsushi, Shibata Hirofumi, Nishitani-Isa Masahiko, Aoki Mariko, Izawa Kazushi, Yoshitomi Hiroyuki, Takita Junko, Ueno Hideki, Taguchi Tomohiko, Yasumi Takahiro, Honda Yoshitaka

Abstract excerpt

Mutations in the MEFV gene, which encodes pyrin, are associated with a spectrum of inflammatory conditions called pyrin-associated autoinflammatory diseases (PAADs). Of the 400 MEFV variants listed in the Infevers database, most are classified as variants of uncertain significance. Thus, genetic diagnosis of PAADs remains challenging, and the molecular mechanisms underlying pyrin activation remain poorly...

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Identifiers

PMID: 42566500
DOI: 10.1126/sciimmunol.aea0705

Genes

CDC42
MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A genotype-first approach reveals the molecular basis of pyrin inflammasome activation.PMID 42566500Read ↗

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