Evidence map›Paper›PMID 42099593›Full record

ArticleFrontiers in immunology2026

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

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

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In one paragraph

Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Asier Lizama-MuñozDepartment of Biochemistry, Molecular Biology and Immunology III, Faculty of Medicine, University of Granada, Granada, Spain.
Juan Francisco Gutiérrez-BautistaDepartment of Biochemistry, Molecular Biology and Immunology III, Faculty of Medicine, University of Granada, Granada, Spain.
José María García-AznarHealth in Code S.L., A Coruña, Spain.
Inmaculada PereaHealth in Code S.L., A Coruña, Spain.
Mónica BernalClinical Analysis and Immunology Department, University Hospital Virgen de las Nieves, Granada, Spain.
Miguel Ángel López-NevotDepartment of Biochemistry, Molecular Biology and Immunology III, Faculty of Medicine, University of Granada, Granada, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 Methods: We analyzed clinical and genetic findings from two individuals harboring distinct heterozygous Results: Genetic screening revealed two different single nucleotide variants (SNVs) in Conclusion: Functional data support that both

Indexed as

Hereditary Autoinflammatory DiseasesIntracellular Signaling Peptides and ProteinsAdultCytokinesFemaleGenetic Predisposition to DiseaseHeterozygoteHumansMaleMiddle AgedPedigreePhenotypePolymorphism, Single NucleotideCytokinesIntracellular Signaling Peptides and ProteinsNLRP12 protein, humanautoinflammatory diseasehuman inborn errors of immunitymolecular characterizationNLRP12 mutationnovel variationphenotype and genotypeSAIDs

Identifiers

PMID42099593
PMCPMC13143751

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.