{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:20:21Z","timestamp":1760059221186,"version":"build-2065373602"},"reference-count":20,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Council for Scientific and Technological Development\u2014CNPq","award":["305313\/2023-1"],"award-info":[{"award-number":["305313\/2023-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2013protein 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.<\/jats:p>","DOI":"10.3390\/genes16060676","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T08:07:58Z","timestamp":1748592478000},"page":"676","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Chronic Pulmonary Aspergillosis: Genomic Variant Analysis and Protein Dysfunction Susceptibility in a Brazilian Cohort"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9607-8245","authenticated-orcid":false,"given":"Rafaela da Silva","family":"Mendes","sequence":"first","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz Martins","family":"Wolff","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2761-3275","authenticated-orcid":false,"given":"Mariana Ribeiro","family":"Costa Siemann","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanca Gasparini","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1505-7651","authenticated-orcid":false,"given":"Gleyson Francisco da Silva","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas Liro","family":"Vieira","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1507-2632","authenticated-orcid":false,"given":"Eder Alencar","family":"Moura","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5939-4939","authenticated-orcid":false,"given":"Karina Marinho","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lissandro de Sousa","family":"Rolim","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre Nathan","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Pneumology, Hospital das Cl\u00ednicas (HCFMUSP), University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7996-8265","authenticated-orcid":false,"given":"Marcello Mihailenko Chaves","family":"Magri","sequence":"additional","affiliation":[{"name":"Department of Infectious and Parasitic Diseases, Hospital das Cl\u00ednicas (HCFMUSP), University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edtor Falc\u00e3o","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Department of Infectious and Parasitic Diseases, Hospital das Cl\u00ednicas (HCFMUSP), University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2236-3956","authenticated-orcid":false,"given":"Leslie Domenici","family":"Kulikowski","sequence":"additional","affiliation":[{"name":"Cytogenomics Laboratory, Departament of Pathology, Faculty of Medicine, University of S\u00e3o Paulo, S\u00e3o Paulo 05403-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e357","DOI":"10.1016\/S1473-3099(17)30309-2","article-title":"Pulmonary and sinus fungal diseases in non-immunocompromised patients","volume":"17","author":"Denning","year":"2017","journal-title":"Lancet Infect. 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