{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:54:17Z","timestamp":1772160857669,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"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":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Heterozygous relatives of ataxia\u2010telangiectasia (AT) patients are at an increased risk for certain AT\u2010related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Lymphocyte phenotyping to enumerate T\u2010 and B\u2010cell subsets was performed. Functional analyses included in vitro quantified \u03b3\u2010H2AX, poly (ADP\u2010ribose) polymerase\u00a0(PARP) and caspase\u20109 proteins. Chromosomal instability was determined by comet assay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We analyzed 20 AT patients (14F\/6M), 31 parents (16F\/15M), and 35 age\u2010matched healthy controls. The AT patients\u2019 parents exhibited low frequency of naive CD4\n                      <jats:sup>+<\/jats:sup>\n                      T\u2010 (n\u00a0=\u00a014, 45%) and recent thymic emigrants (n\u00a0=\u00a011, 35%) in comparison with the age\u2010matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9\/14, 64%). In comparison with age\u2010matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline \u03b3\u2010H2AX levels and H\n                      <jats:sub>2<\/jats:sub>\n                      O\n                      <jats:sub>2<\/jats:sub>\n                      \u2010induced DNA damage as well as increased cleaved caspase\u20109 and PARP proteins.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Parents of AT patients could present with recurrent infections and display cellular defects that mimic AT patients. The observed immunological changes could be associated with increased DNA double\u2010strand breaks.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pai.13387","type":"journal-article","created":{"date-parts":[[2020,10,4]],"date-time":"2020-10-04T15:04:40Z","timestamp":1601823880000},"page":"349-357","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Parents of ataxia\u2010telangiectasia patients display a distinct cellular immune phenotype mimicking\n                    <i>ATM<\/i>\n                    \u2010mutated patients"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8282-7762","authenticated-orcid":false,"given":"Ismail","family":"Ogulur","sequence":"first","affiliation":[{"name":"Division of Pediatric Allergy\u2010Immunology, Faculty of Medicine Marmara University Istanbul Turkey"},{"name":"Istanbul Jeffrey Modell Diagnostic and Research Center for Primary 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