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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
, Costa Siemann, Mariana Ribeiro
, Oliveira, Yanca Gasparini
, Mendes, Rafaela da Silva
, Moura, Eder Alencar
, Nascimento, Karina Marinho
, Wolff, Beatriz Martins
, de Oliveira, Vítor Falcão
, Carvalho, Gleyson Francisco da Silva
, Rolim, Lissandro de Sousa
, Kulikowski, Leslie Domenici
in
Accountants
/ Adult
/ Aged
/ Aspergillosis
/ Brazil - epidemiology
/ Chronic Disease
/ Classification
/ Cohort Studies
/ CX3CR1 protein
/ Cytokines
/ Ethylenediaminetetraacetic acid
/ Female
/ Fungal infections
/ Genetic Predisposition to Disease
/ Genomes
/ Genomic analysis
/ Genomics
/ Humans
/ Immune response
/ Immunity (Disease)
/ Immunocompetence
/ Immunogenetics
/ Immunology
/ Interleukin 4 receptors
/ Lung diseases
/ Male
/ Medical research
/ Medicine, Experimental
/ Middle Aged
/ Mortality
/ Mutation
/ Neutropenia
/ Pathogens
/ Patients
/ Pattern recognition
/ Polymorphism, Single Nucleotide
/ Protein interaction
/ Proteins
/ Pulmonary aspergillosis
/ Pulmonary Aspergillosis - genetics
/ Tuberculosis
2025
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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
, Costa Siemann, Mariana Ribeiro
, Oliveira, Yanca Gasparini
, Mendes, Rafaela da Silva
, Moura, Eder Alencar
, Nascimento, Karina Marinho
, Wolff, Beatriz Martins
, de Oliveira, Vítor Falcão
, Carvalho, Gleyson Francisco da Silva
, Rolim, Lissandro de Sousa
, Kulikowski, Leslie Domenici
in
Accountants
/ Adult
/ Aged
/ Aspergillosis
/ Brazil - epidemiology
/ Chronic Disease
/ Classification
/ Cohort Studies
/ CX3CR1 protein
/ Cytokines
/ Ethylenediaminetetraacetic acid
/ Female
/ Fungal infections
/ Genetic Predisposition to Disease
/ Genomes
/ Genomic analysis
/ Genomics
/ Humans
/ Immune response
/ Immunity (Disease)
/ Immunocompetence
/ Immunogenetics
/ Immunology
/ Interleukin 4 receptors
/ Lung diseases
/ Male
/ Medical research
/ Medicine, Experimental
/ Middle Aged
/ Mortality
/ Mutation
/ Neutropenia
/ Pathogens
/ Patients
/ Pattern recognition
/ Polymorphism, Single Nucleotide
/ Protein interaction
/ Proteins
/ Pulmonary aspergillosis
/ Pulmonary Aspergillosis - genetics
/ Tuberculosis
2025
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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
, Costa Siemann, Mariana Ribeiro
, Oliveira, Yanca Gasparini
, Mendes, Rafaela da Silva
, Moura, Eder Alencar
, Nascimento, Karina Marinho
, Wolff, Beatriz Martins
, de Oliveira, Vítor Falcão
, Carvalho, Gleyson Francisco da Silva
, Rolim, Lissandro de Sousa
, Kulikowski, Leslie Domenici
in
Accountants
/ Adult
/ Aged
/ Aspergillosis
/ Brazil - epidemiology
/ Chronic Disease
/ Classification
/ Cohort Studies
/ CX3CR1 protein
/ Cytokines
/ Ethylenediaminetetraacetic acid
/ Female
/ Fungal infections
/ Genetic Predisposition to Disease
/ Genomes
/ Genomic analysis
/ Genomics
/ Humans
/ Immune response
/ Immunity (Disease)
/ Immunocompetence
/ Immunogenetics
/ Immunology
/ Interleukin 4 receptors
/ Lung diseases
/ Male
/ Medical research
/ Medicine, Experimental
/ Middle Aged
/ Mortality
/ Mutation
/ Neutropenia
/ Pathogens
/ Patients
/ Pattern recognition
/ Polymorphism, Single Nucleotide
/ Protein interaction
/ Proteins
/ Pulmonary aspergillosis
/ Pulmonary Aspergillosis - genetics
/ Tuberculosis
2025
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Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian Cohort
Journal Article
Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian Cohort
2025
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Overview
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.
Publisher
MDPI AG,MDPI
Subject
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