{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:24:57Z","timestamp":1784204697096,"version":"3.55.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T00:00:00Z","timestamp":1556150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>One of the components of NADPH oxidase is p47\u2010<jats:italic>phox,<\/jats:italic>encoded by<jats:italic>NCF1<\/jats:italic>gene. This study aims to find new genetic changes and clinical features in 38 Iranian patients with autosomal recessive chronic granulomatous disease (AR\u2010CGD) caused by<jats:italic>NCF1<\/jats:italic>gene defect. Patients who had abnormal NBT and DHR\u20101,2,3 assay with loss of p47\u2010<jats:italic>phox<\/jats:italic>in Western blotting were included in this study. After recording demographic and clinical data, PCR amplification was performed followed by direct sequencing for all exons and exon\u2010intron boundaries. The most common form of CGD in Iran was AR\u2010CGD due to consanguinity marriages. Among patients with AR\u2010CGD,<jats:italic>NCF1<\/jats:italic>deficiency was found to be more common than other forms. Cutaneous involvements (53%), pulmonary infections (50%) and lymphadenopathy (29%) were more prevalent than other clinical manifestations of CGD. Mutation analysis of<jats:italic>NCF1<\/jats:italic>gene identified five different mutations. Homozygous delta GT deletion (c.75_76delGT) was the most frequent mutation and was detected in more than 63% of families. Six families had a nonsense mutation in exon 7 (c.579G\u00a0&gt;\u00a0A). Two novel mutations were found in exon 4 in two families, including a missense mutation (c.328C\u00a0&gt;\u00a0T) and a nine\u2010nucleotide deletion (c.331_339delTGTCCCCAC). Genetic detection of these mutations may result in early diagnosis and prevention of possible complications of the disease. This could be useful for timely decision\u2010making for haematopoietic stem cell transplantation and for carrier detection as well as prenatal diagnosis of next children in the affected families. Our findings might help to predict outcomes, raise awareness and help effective treatment in these patients.<\/jats:p>","DOI":"10.1111\/sji.12767","type":"journal-article","created":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T06:20:18Z","timestamp":1554790818000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47\u2010<i>phox<\/i>defect"],"prefix":"10.1111","volume":"90","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2465-4717","authenticated-orcid":false,"given":"Shaghayegh","family":"Tajik","sequence":"first","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Badalzadeh","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy 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