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Article

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Journal of clinical immunology - 8 Jul 2025

Diab Farah, Louvrier Camille, Fabre Marc, Lin Christine, Rabbaa Mira, Assrawi Eman, Daskalopoulou Aphrodite, Mani Rahma, Dastot Le Moal Florence, Piterboth William, Legendre Marie, Amselem Serge, Karabina Sonia Athina, Giurgea Irina

Abstract excerpt

Autoinflammatory diseases (AIDs) are a group of disorders caused by a dysregulation of the innate immune system, among which inflammasomopathies are characterized by recurrent episodes of fever associated with systemic inflammation and organ involvement. Gain-of-function variants in the inflammasome-related gene NLRC4 underlie severe phenotypes such as infantile enterocolitis and macrophage activation syndrome...

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Identifiers

PMID: 40627075
DOI: 10.1007/s10875-025-01907-w
PMCID: PMC12238191

Genes

NLRC4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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