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Article

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

The Journal of allergy and clinical immunology - 1 Apr 2020

Louvrier Camille, Assrawi Eman, El Khouri Elma, Melki Isabelle, Copin Bruno, Bourrat Emmanuelle, Lachaume Noémie, Cador-Rousseau Bérengère, Duquesnoy Philippe, Piterboth William, Awad Fawaz, Jumeau Claire, Legendre Marie, Grateau Gilles, Georgin-Lavialle Sophie, Karabina Sonia A, Amselem Serge, Giurgea Irina

Abstract excerpt

BACKGROUND: NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include conditions of various severities, due to germline or somatic mosaic NLRP3 mutations. OBJECTIVE: To identify mosaic- versus germline-specific NLRP3 mutations' characteristics, we reinterpreted all the mutations reported in NLRP3-AIDs and performed an in-depth study of 3 novel patients. METHODS: The pathogenicity of all reported...

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PMID: 31816408
DOI: 10.1016/j.jaci.2019.11.035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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