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Updated: Sep 18, 2025

Histological Quantification to Determine Lung Fungal Burden in Experimental Aspergillosis
Published on: March 9, 2018
Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian
Rafaela da Silva Mendes1, Beatriz Martins Wolff1, Mariana Ribeiro Costa Siemann1
1Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of São Paulo, São Paulo 05403-000, Brazil.
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.
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