{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T16:55:07Z","timestamp":1773939307543,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,9,20]],"date-time":"2017-09-20T00:00:00Z","timestamp":1505865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences and Health Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Chronic granulomatous disease (<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content>) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (<jats:styled-content style=\"fixed-case\">NADPH<\/jats:styled-content>)\u2010oxidase enzyme. The enzyme is at least composed of membrane\u2010bound subunits gp91\u2010<jats:italic>phox<\/jats:italic> and p22\u2010<jats:italic>phox<\/jats:italic> (also named cytochrome b<jats:sub>558<\/jats:sub>), and cytosolic ones p40\u2010<jats:italic>phox<\/jats:italic>, p47\u2010<jats:italic>phox<\/jats:italic> and p67<jats:italic>\u2010phox<\/jats:italic>. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The <jats:italic><jats:styled-content style=\"fixed-case\">CYBA<\/jats:styled-content><\/jats:italic> gene encoding p22\u2010<jats:italic>phox<\/jats:italic> is located on chromosome 16q24. In this study, new genetic changes of <jats:italic><jats:styled-content style=\"fixed-case\">CYBA<\/jats:styled-content><\/jats:italic> gene in 22 Iranian patients with autosomal recessive\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content>) were identified. Twenty\u2010two patients with <jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content> were referred to Immunology, Asthma and Allergy Research Institute (<jats:styled-content style=\"fixed-case\">IAARI<\/jats:styled-content>) and enrolled in this study based on defect in <jats:styled-content style=\"fixed-case\">NADPH<\/jats:styled-content> oxidase activity, demographic data and clinical histories. All patients had p22\u2010<jats:italic>phox<\/jats:italic> deficiency based on Western blotting. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was extracted from peripheral blood mononuclear cells (<jats:styled-content style=\"fixed-case\">PBMC<\/jats:styled-content>s), and <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> followed by direct sequencing was performed to find p22\u2010<jats:italic>phox<\/jats:italic> mutations. Mutation analysis of <jats:italic><jats:styled-content style=\"fixed-case\">CYBA<\/jats:styled-content><\/jats:italic> revealed 12 different mutations, including three novel mutations: one was deletion of exon 1, and two were point mutations in exon 3 (c.136G&gt;A (p.Gly46Ser)), and exon 6 (c.388C&gt;T (p.Gln130X)). Three new mutations of <jats:italic><jats:styled-content style=\"fixed-case\">CYBA<\/jats:styled-content><\/jats:italic> gene in four of 22 Iranian patients with <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content> were found. These three novel mutations can partly complete the database of Human Gene Mutation Database (<jats:styled-content style=\"fixed-case\">HGMD<\/jats:styled-content>) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families. Given that currently bone marrow transplantation is considered to be the curative treatment for patients with <jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content>, finding mutations will also be useful for timely decision\u2010making in bone marrow transplantation.<\/jats:p>","DOI":"10.1111\/iji.12336","type":"journal-article","created":{"date-parts":[[2017,9,20]],"date-time":"2017-09-20T10:17:46Z","timestamp":1505902666000},"page":"314-321","source":"Crossref","is-referenced-by-count":8,"title":["Three novel mutations in <i><scp>CYBA<\/scp><\/i> among 22 Iranians with Chronic granulomatous disease"],"prefix":"10.1111","volume":"44","author":[{"given":"M.","family":"Badalzadeh","sequence":"first","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tajik","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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