Evidence map›Paper›PMID 39116841›Full record

ArticleJournal of innate immunity2024

Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.

Marcelo Teocchi, Thaís de Andrade Eugênio, Lia Furlaneto Marega, Isabella Quinti, Maria Marluce Dos Santos Vilela

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In one paragraph

Article in Journal of innate immunity, 2024. 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

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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. Article
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

5 authors.

Marcelo TeocchiLaboratory of Pediatric Immunology, Center for Investigation in Pediatrics, University of Campinas Medical School (FCM-UNICAMP), Campinas, Brazil.
Thaís de Andrade EugênioLaboratory of Pediatric Immunology, Center for Investigation in Pediatrics, University of Campinas Medical School (FCM-UNICAMP), Campinas, Brazil.
Lia Furlaneto MaregaLaboratory of Pediatric Immunology, Center for Investigation in Pediatrics, University of Campinas Medical School (FCM-UNICAMP), Campinas, Brazil.
Isabella QuintiDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Maria Marluce Dos Santos VilelaLaboratory of Pediatric Immunology, Center for Investigation in Pediatrics, University of Campinas Medical School (FCM-UNICAMP), Campinas, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionIn X-linked agammaglobulinemia (XLA), the diversity of BTK variants complicates the study of genotype-phenotype correlations. Since BTK negatively regulates toll-like receptors (TLRs), we investigated if distinct BTK mutation types selectively modulate TLR pathways, affecting disease expression.

methodsUsing reverse transcription-quantitative polymerase chain reaction, we quantified ten TLR signaling-related genes in XLA patients with missense (n = 3) and nonsense (n = 5) BTK mutations and healthy controls (n = 17).

resultsBTK, IRAK2, PIK3R4, REL, TFRC, and UBE2N were predominantly downregulated, while RIPK2, TLR3, TLR10, and TLR6 showed variable regulation. The missense XLA group exhibited significant downregulation of IRAK2, PIK3R4, REL, and TFRC and upregulation of TLR3 and/or TLR6.

conclusionHypo-expression of TLR3, TLR6, and TLR10 may increase susceptibility to infections, while hyper-expression might contribute to chronic inflammatory conditions like arthritis or inflammatory bowel disease. Our findings shed light on the important inflammatory component characteristic of some XLA patients, even under optimal therapeutic conditions.

Indexed as

Agammaglobulinaemia Tyrosine KinaseAgammaglobulinemiaGenetic Association StudiesGenetic Diseases, X-LinkedSignal TransductionToll-Like ReceptorsAdolescentAdultChildChild, PreschoolFemaleGene Expression RegulationHumansMaleMutationYoung AdultAgammaglobulinaemia Tyrosine KinaseBTK protein, humanToll-Like ReceptorsB-lymphocytesBruton’s tyrosine kinaseGene expression profilingNF-kappaBToll-like receptorX-linked agammaglobulinemia

Identifiers

PMID39116841
PMCPMC11521414

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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.