{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T13:50:58Z","timestamp":1776088258212,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100014828","name":"Research Center for Environmental Technologies, Ahvaz Jundishapur University of Medical Sciences","doi-asserted-by":"publisher","award":["IR.AJUMS.REC.1397.853"],"award-info":[{"award-number":["IR.AJUMS.REC.1397.853"]}],"id":[{"id":"10.13039\/501100014828","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X\u2010linked chronic granulomatous disease (X\u2010CGD) is an immunodeficiency disorder caused by defects in the gp91\n                      <jats:sup>phox<\/jats:sup>\n                      subunit that leads to life\u2010threatening infections. We aimed to identify\n                      <jats:italic>CYBB<\/jats:italic>\n                      gene mutations and study clinical phenotypes in Iranian patients with probable X\u2010CGD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We studied four unrelated Iranian patients with probable X\u2010CGD and their families recruited in several years. We isolated genomic DNA from whole blood and performed Sanger sequencing in the\n                      <jats:italic>CYBB<\/jats:italic>\n                      gene's coding and flanking regions. We also performed pathogenicity predictions using in silico tools.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We detected four different mutations, including a novel insertion mutation in exon 5 (p.Ile117AsnfsX6), in the patient. Bioinformatics analysis confirmed the pathogenic effect of this mutation. We predicted protein modeling and demonstrated lost functional domains. The patient with the insertion mutation presented pneumonia and acute sinusitis during his life. We also detected three other known nonsense mutations (p.Arg157Ter, p.Arg226Ter, and p.Trp424Ter) in the\n                      <jats:italic>CYBB<\/jats:italic>\n                      gene. The patient with p.Arg157Ter developed lymphadenitis and pneumonia. Moreover, the patient with inflammatory bowel disease showed p.Arg226Ter and the patient with tuberculosis presented p.Trp424Ter. We detected different clinical features in the patients compared to other Iranian patients with the same mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results expand the genetic database of patients with X\u2010CGD from Iran and make it much easier and faster to identify\u00a0patients with X\u2010CGD. Our results also help to detect carriers and enable prenatal diagnosis in high\u2010risk families as a cost\u2010effective strategy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23637","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T01:40:00Z","timestamp":1603503600000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of Cytochrome b\u2010245, beta\u2010chain gene mutations, and clinical presentations in Iranian patients with X\u2010linked chronic granulomatous disease"],"prefix":"10.1002","volume":"35","author":[{"given":"Atefeh","family":"Heydari","sequence":"first","affiliation":[{"name":"Cellular and Molecular Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"},{"name":"Department of Medical Genetics School of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farhad","family":"Abolnezhadian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Abuzar Children's Hospital Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahnaz","family":"Sadeghi\u2010Shabestari","sequence":"additional","affiliation":[{"name":"Immunology research center of Tabriz\u2010TB and lung research center of Tabriz\u2010children hospital Tabriz University of Medical Sciences Tabriz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Shamsizadeh","sequence":"additional","affiliation":[{"name":"Infectious and Tropical Diseases Research Center Health Research Institute Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ata A.","family":"Ghadiri","sequence":"additional","affiliation":[{"name":"Department of Immunology Cellular and Molecular Research Center School of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7828-6465","authenticated-orcid":false,"given":"Pegah","family":"Ghandil","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"},{"name":"Department of Medical Genetics School of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"},{"name":"Diabetes Research Center Health Research Institute Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2008.03644.x"},{"key":"e_1_2_9_3_1","first-page":"452","article-title":"Lupus erythematosus and chronic granulomatous disease: report of four Iranian Patients with AR\u2010CGD and One XL\u2010CGD","volume":"18","author":"Maddah M","year":"2019","journal-title":"Iran J Allergy, Asthma 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