{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:54:21Z","timestamp":1789811661838,"version":"4.0.1"},"reference-count":77,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences and Health Services","doi-asserted-by":"publisher","award":["40601"],"award-info":[{"award-number":["40601"]}],"id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Ataxia\u2010telangiectasia (A\u2010T) is a rare genetic disorder characterized by a distinct range of clinical manifestations, including progressive ataxia, immunodeficiency, and radiosensitivity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical data, laboratory results, and genetic data were collected from forty\u2010three A\u2010T patients. Whole\u2010exome sequencing and Sanger sequencing were done for the patients clinically diagnosed as suffering from A\u2010T. Based on the phenotype severity of the disease, patients were divided into severe and mild subgroups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median (IQR) age of diagnosis in this cohort was 5 (3\u20107) years, and various types of clinical manifestations, including fever (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=.005), lower respiratory tract infection (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a0.033), diarrhea (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a0.014), and hepatosplenomegaly (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a0.032), were significantly higher among patients diagnosed with the severe phenotype. Our results showed a correlation between phenotype severity and mutation type. The chance of having severe phenotype in patients who have severe mutations, including frameshift and nonsense, was 7.3 times higher than in patients who were categorized in the mild genotype group (odds ratio\u00a0= 7.3,\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a0.006). Thirty\u2010four types of mutations including 9 novel mutations were observed in our study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Molecular analysis provides the opportunity for accurate diagnosis and timely management in A\u2010T patients with chronic progressive disease, especially infections and the risk of malignancies. This study characterizes for the first time the broad spectrum of mutations and phenotypes in Iranian A\u2010T patients, which is required for carrier detection and reducing the burden of disease in the future using the patients\u2019 families and for the public healthcare system.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pai.13461","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T13:18:58Z","timestamp":1612790338000},"page":"1316-1326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["The spectrum of\n                    <i>ATM<\/i>\n                    gene mutations in Iranian patients with ataxia\u2010telangiectasia"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7782-824X","authenticated-orcid":false,"given":"Parisa","family":"Amirifar","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of 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