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Article

Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.

Frontiers in immunology - 1 Jan 2026

Lizama-Muñoz Asier, Gutiérrez-Bautista Juan Francisco, García-Aznar José María, Perea Inmaculada, Bernal Mónica, López-Nevot Miguel Ángel

Abstract excerpt

Background: Systemic autoinflammatory diseases (SAIDs) are a rare, heterogeneous group of disorders caused by dysregulated innate immune activation. Objective: To characterize the phenotype and clinical features of two unrelated cases with SAID suspicion, each carrying a heterozygous NLRP12 variant of uncertain significance (VUS)-one previously reported and one newly identified in Europeans-and to evaluate their...

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Source

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Identifiers

PMID: 42099593
DOI: 10.3389/fimmu.2026.1755711
PMCID: PMC13143751

Genes

NLRP12
TNF
CRP

Variants

Provenance

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

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