{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:49:13Z","timestamp":1789728553796,"version":"4.0.1"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical characteristics and laboratory findings were retrospectively reviewed. Peripheral blood samples were collected from the patient and both parents. Genomic DNA was extracted and subjected to trio whole-exome sequencing (WES) using high-throughput sequencing technology. Sanger sequencing was used to validate suspected pathogenic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole-exome sequencing revealed a homozygous variant c.427C&amp;gt;T (p.Q143*) in exon 6 of the\n                      <jats:italic>CYBA<\/jats:italic>\n                      gene, inherited from both parents. This variant has not been previously reported in the literature. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, c.427C&amp;gt;T(p.Q143*) was assessed as a likely pathogenic variant (PVS1_Strong+PM2_Supporting+PM3_Supporting). This variant is associated with autosomal recessive chronic granulomatous disease type 4(A22\u00b0 CGD).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study identified a novel\n                      <jats:italic>CYBA<\/jats:italic>\n                      gene variant in a pediatric patient with recurrent severe pneumonia and pleural effusion, expanding the spectrum of pathogenic variants in this gene and providing evidence for clinical diagnosis and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1744743","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T06:50:33Z","timestamp":1773903033000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease"],"prefix":"10.3389","volume":"17","author":[{"given":"Wen-Yuan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatric Respiratory Medicine II, Gansu Provincial Maternal and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, Gansu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pan-Pan","family":"Ma","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Gansu Provincial Maternal and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, Gansu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Respiratory Medicine II, Gansu Provincial Maternal and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, Gansu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Respiratory Medicine II, Gansu Provincial Maternal and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, Gansu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200005000-00002","article-title":"Chronic granulomatous disease. 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