Evidence map›Paper›PMID 40565568›Full record

ArticleGenes2025

Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian Cohort.

Rafaela da Silva Mendes, Beatriz Martins Wolff, Mariana Ribeiro Costa Siemann, Yanca Gasparini Oliveira, Gleyson Francisco da Silva Carvalho, Lucas Liro Vieira, Eder Alencar Moura, Karina Marinho Nascimento, Lissandro de Sousa Rolim, Andre Nathan Costa and 3 more

Abstract read
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In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Rafaela da Silva MendesCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0002-9607-8245
Beatriz Martins WolffCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.
Mariana Ribeiro Costa SiemannCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0002-2761-3275
Yanca Gasparini OliveiraCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.
Gleyson Francisco da Silva CarvalhoCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0003-1505-7651
Lucas Liro VieiraCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.
Eder Alencar MouraCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0003-1507-2632
Karina Marinho NascimentoCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0009-0007-5939-4939
Lissandro de Sousa RolimCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.
Andre Nathan CostaDepartment of Pneumology, Hospital das Clínicas (HCFMUSP), University of São Paulo, São Paulo 05403-000, Brazil.
Marcello Mihailenko Chaves MagriDepartment of Infectious and Parasitic Diseases, Hospital das Clínicas (HCFMUSP), University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0001-7996-8265
Vítor Falcão de OliveiraDepartment of Infectious and Parasitic Diseases, Hospital das Clínicas (HCFMUSP), University of São Paulo, São Paulo 05403-000, Brazil.
Leslie Domenici KulikowskiCytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0003-2236-3956

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesChronic pulmonary aspergillosis (CPA) is a debilitating condition often affecting immunocompetent patients with underlying structural lung diseases, particularly pulmonary tuberculosis. This study investigates single nucleotide variants (SNVs) in immunogenetic-related genes among a Brazilian cohort with CPA.

methodsTwelve patients with confirmed CPA, based on ESCMID/ERS criteria, were sequenced using custom multigenic panel sequencing. Variants were annotated, classified using ACMG guidelines, and analyzed for potential impact on protein interactions and immune pathways.

resultsA set of SNVs in

conclusionsThis is the first study to apply a custom multigenic panel for CPA susceptibility in a Brazilian cohort, contributing to future functional and clinical studies in fungal immunogenetics.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotidePulmonary AspergillosisAdultAgedBrazilChronic DiseaseCohort StudiesFemaleHumansMaleMiddle AgedAspergillusCPAimmune genetic

Identifiers

PMID40565568
PMCPMC12193534

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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.