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Individuals affected by CGD become more susceptible to recurrent and severe infections. Six male patients from Southern Brazil were clinically and genetically analyzed through data collection from medical records and massively parallel sequencing by a panel for the following genes:\n                    <jats:italic>CYBB<\/jats:italic>\n                    ,\n                    <jats:italic>CYBA<\/jats:italic>\n                    ,\n                    <jats:italic>NCF1<\/jats:italic>\n                    ,\n                    <jats:italic>NCF2<\/jats:italic>\n                    , and\n                    <jats:italic>NCF4<\/jats:italic>\n                    and whole genome sequencing analysis. The gene\u2010scan technique was used to identify the GT deletion in\n                    <jats:italic>NCF1<\/jats:italic>\n                    . The most common affected organs were the lungs, skin, and lymph nodes; the most common clinical manifestations were recurrent pneumonia, cutaneous involvement, lymph node manifestations, and failure to thrive. Four patients were identified with variants in\n                    <jats:italic>CYBB<\/jats:italic>\n                    : p.Cys257Ser, which is novel; p.Cys257Arg; p.Arg157Ter; and p.Trp483Ter. Both missense variants damage the loop E in gp91\n                    <jats:sup>phox<\/jats:sup>\n                    , a region with functional and structural relevance for the protein. Functional studies show the expression absence of the protein in patients with the variant p.Arg157Ter. The variant p.Trp483Ter is predicted to undergo nonsense mRNA\u2010mediated decay. The GT deletion in\n                    <jats:italic>NCF1<\/jats:italic>\n                    was identified in two siblings from consanguineous parents: one homozygous and the other apparently heterozygous for the deletion, both with a clinical diagnosis of CGD. Variant analysis in this gene is particularly challenging due to the presence of pseudogenes. A hypothesis for this genotypic discrepancy is the occurrence of a second type of pseudogene lacking the GT deletion, which may have arisen in one parent and been transmitted to the patient observed as heterozygous, being misinterpreted in the analyses as a functional\n                    <jats:italic>NCF1<\/jats:italic>\n                    sequence.\n                  <\/jats:p>","DOI":"10.1002\/jgm.70086","type":"journal-article","created":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T02:40:45Z","timestamp":1770432045000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients"],"prefix":"10.1002","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3545-0576","authenticated-orcid":false,"given":"Leonardo\u00a0Martinello","family":"da Rosa","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular (PPGBM) Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Centro de Pesquisa Experimental (CPE), Basic Research and Advanced Investigation in Neurosciences Laboratory (BRAIN)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha\u00a0Braun","family":"da Rosa","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Centro de Pesquisa Experimental (CPE), Basic Research and Advanced Investigation in Neurosciences Laboratory (BRAIN)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana\u00a0de\u00a0Sampaio\u00a0Leite\u00a0Jobim","family":"Wilson","sequence":"additional","affiliation":[{"name":"Hospital Moinhos de Vento (HMV)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida\u00a0Vanessa\u00a0Doederlein","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular (PPGBM) Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Centro de Pesquisa Experimental (CPE), Basic Research and Advanced Investigation in Neurosciences Laboratory (BRAIN)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"InRaras \u2010 Brazilian Institute on Rare Diseases  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2460-7064","authenticated-orcid":false,"given":"Fernanda","family":"Sperb\u2010Ludwig","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular (PPGBM) Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Centro de Pesquisa Experimental (CPE), Basic Research and Advanced Investigation in Neurosciences Laboratory (BRAIN)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,6]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13154435"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2021.102596"},{"key":"e_1_2_13_4_1","unstructured":"Brasil Minist\u00e9rio da Sa\u00fade \u201cBoletim Epidemiol\u00f3gico \u2013 Tuberculose 2025: N\u00famero Especial Mar\u00e7o de 2025. 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