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"Rolim, Lissandro de Sousa"
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Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian Cohort
by
Vieira, Lucas Liro
,
Costa, Andre Nathan
,
Magri, Marcello Mihailenko Chaves
in
Accountants
,
Adult
,
Aged
2025
Background/Objectives: Chronic 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. Methods: Twelve 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. Results: A set of SNVs in CX3CR1, IL12B, IL4R, PTX3, CCR5, and IFNG genes were classified as variants of uncertain significance (VUS), but protein–protein interaction analysis suggests a potential role in immune evasion and dysfunction. Conclusions: This 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.
Journal Article