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Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients

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dc.contributor.authorÖĞÜLÜR, İSMAİL
dc.contributor.authorErtuzun, Tugce
dc.contributor.authorKOCAMIŞ, BURCU
dc.contributor.authorKendir Demirkol, Yasemin
dc.contributor.authorUyar, Emel
dc.contributor.authorKIYKIM, Ayça
dc.contributor.authorBaser, Dilek
dc.contributor.authorYEŞİL, Gözde
dc.contributor.authorAkturk, Hacer
dc.contributor.authorSomer, Ayper
dc.contributor.authorOzen, Ahmet
dc.contributor.authorKarakoc-Aydiner, Elif
dc.contributor.authorMÜFTÜOĞLU, Meltem
dc.contributor.authorBARIŞ, SAFA
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2020-11-11T22:13:58Z
dc.date.available2020-11-11T22:13:58Z
dc.date.issued2020-10-01T00:00:00Z
dc.description.abstractBackground Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related 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. Methods Lymphocyte phenotyping to enumerate T- and B-cell subsets was performed. Functional analyses included in vitro quantified gamma-H2AX, poly (ADP-ribose) polymerase (PARP) and caspase-9 proteins. Chromosomal instability was determined by comet assay. Results We analyzed 20 AT patients (14F/6M), 31 parents (16F/15M), and 35 age-matched healthy controls. The AT patients- parents exhibited low frequency of naive CD4(+)T- (n = 14, 45%) and recent thymic emigrants (n = 11, 35%) in comparison with the age-matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9/14, 64%). In comparison with age-matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline gamma-H2AX levels and H2O2-induced DNA damage as well as increased cleaved caspase-9 and PARP proteins. Conclusion 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-strand breaks.
dc.identifier.citationÖĞÜLÜR İ., Ertuzun T., KOCAMIŞ B., Kendir Demirkol Y., Uyar E., KIYKIM A., Baser D., YEŞİL G., Akturk H., Somer A., et al., -Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients-, PEDIATRIC ALLERGY AND IMMUNOLOGY, 2020
dc.identifier.doi10.1111/pai.13387
dc.identifier.pubmed33012025
dc.identifier.scopus85092708350
dc.identifier.urihttp://hdl.handle.net/20.500.12645/27372
dc.identifier.wosWOS:000579357800001
dc.titleParents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients
dc.typeArticle
dspace.entity.typePublication
local.avesis.ida69ab7a7-30d1-4fcb-aafa-beacf1ccd7bd
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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