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

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsOgulur, Ismail; Ertuzun, Tugce; Kocamis, Burcu; Kendir Demirkol, Yasemin; Uyar, Emel; Kiykim, Ayca; Baser, Dilek; Yesil, Gozde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc-Aydiner, Elif; Muftuoglu, Meltem; Baris, Safa
dc.date.accessioned2022-03-12T22:54:51Z
dc.date.available2022-03-12T22:54:51Z
dc.date.issued2021
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.doi10.1111/pai.13387
dc.identifier.eissn1399-3038
dc.identifier.issn0905-6157
dc.identifier.pubmed33012025
dc.identifier.urihttps://hdl.handle.net/11424/236550
dc.identifier.wosWOS:000579357800001
dc.language.isoeng
dc.publisherWILEY
dc.relation.ispartofPEDIATRIC ALLERGY AND IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectataxia-telangiectasia
dc.subjectDNA strand breaks
dc.subjectinfection
dc.subjectlymphocyte subsets
dc.subjectoxidative stress
dc.subjectparents
dc.subjectRADIATION-INDUCED APOPTOSIS
dc.subjectDNA-DAMAGE
dc.subjectCANCER-RISK
dc.subjectATM
dc.subjectHETEROZYGOTES
dc.subjectDEFICIENCY
dc.subjectCLEAVAGE
dc.subjectROLES
dc.subjectGENE
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.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages9
local.journal.quartileQ1
oaire.citation.endPage357
oaire.citation.issue2
oaire.citation.startPage349
oaire.citation.titlePEDIATRIC ALLERGY AND IMMUNOLOGY
oaire.citation.volume32
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication.latestForDiscovery3e9c297b-e636-4836-8f61-dc9c8b7c29cf

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