Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

doi:10.1126/scitranslmed.aaf1471

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Article

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Science translational medicine - 30 Mar 2016

Masters Seth L, Lagou Vasiliki, Jéru Isabelle, Baker Paul J, Van Eyck Lien, Parry David A, Lawless Dylan, De Nardo Dominic, Garcia-Perez Josselyn E, Dagley Laura F, Holley Caroline L, Dooley James, Moghaddas Fiona, Pasciuto Emanuela, Jeandel Pierre-Yves, Sciot Raf, Lyras Dena, Webb Andrew I, Nicholson Sandra E, De Somer Lien, van Nieuwenhove Erika, Ruuth-Praz Julia, Copin Bruno, Cochet Emmanuelle, Medlej-Hashim Myrna, Megarbane Andre, Schroder Kate, Savic Sinisa, Goris An, Amselem Serge, Wouters Carine, Liston Adrian

Abstract excerpt

Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease,...

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Identifiers

PMID: 27030597
DOI: 10.1126/scitranslmed.aaf1471

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MEFV

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

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Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.PMID 27030597Read ↗

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Functional Assessment of Disease-Associated Pyrin Variants.Semantic proximity Read ↗

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Clostridium difficile Toxin B activates the NLRP3 inflammasome in human macrophages, demonstrating a novel regulatory mechanism for the Pyrin inflammasomeSemantic proximity Read ↗

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