A novel pathogenic frameshift variant of CD3E gene in two T-B plus NK plus SCID patients from Turkey

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dc.authoridOzbek, Ugur/0000-0001-5319-0547|NG, YUK YIN/0000-0001-9755-6045|Firtina, Sinem/0000-0002-3370-8545|cinar, suzan/0000-0002-8330-7010|Hatirnaz Ng, Ozden/0000-0001-7728-6527|Aydin Sayitoglu, Muge/0000-0002-8648-213X
dc.authorwosidSayitoglu, Muge/B-6578-2015
dc.authorwosidOzbek, Ugur/C-9513-2017
dc.authorwosidNG, YUK YIN/AAG-7977-2020
dc.authorwosidFirtina, Sinem/X-8520-2018
dc.authorwosidcinar, suzan/J-4770-2019
dc.authorwosidYeşilbaş, Osman/AAR-9176-2021
dc.authorwosidFırtına, Sinem/GSD-3891-2022
dc.contributor.authorFirtina, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNg, Ozden Hatirnaz
dc.contributor.authorNepesov, Serdar
dc.contributor.authorYesilbas, Osman
dc.contributor.authorKilercik, Meltem
dc.contributor.authorBurtecene, Nihan
dc.date.accessioned2024-07-18T20:40:26Z
dc.date.available2024-07-18T20:40:26Z
dc.date.issued2017
dc.departmentİstanbul Bilgi Üniversitesien_US
dc.description.abstractSevere combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput technology, and has already been proven to be beneficial in medical diagnostics. In this study, a targeted NGS panel was developed to identify the genetic variations of SCID by using SmartChip-TE technology, and a novel pathogenic frameshift variant was found in the CD3E gene. Sanger sequencing has confirmed the segregation of the variant among patients. We found a novel deletion in the CD3E gene (NM000733.3:p.L58Hfs*9) in two T-B+ NK+ patients. The variant was not found in the databases of dbSNP, ExAC, and 1000G. One sibling in family I was homozygous and the rest of the family members were heterozygous for this variant. T cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) analyses were performed for T and B cell maturation. TRECs were not detected in both patients and the KREC copy numbers were similar to the other family members. In addition, heterozygous family members showed decreased TREC levels when compared with the wild-type sibling, indicating that carrying this variant in one allele does not cause immunodeficiency, but does effect T cell proliferation. Here, we report a novel pathogenic frameshift variant in CD3E gene by using targeted NGS panel.en_US
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK) [2211-C]; Istanbul University [52575, 20499]en_US
dc.description.sponsorshipWe would like to thank to David Chapman from Istanbul University for his editorial support and to Dr. Luisa Imberti from Laboratorio CREA, AO Spedali Civili di Brescia, for providing the TREC-KREC-TCRAC plasmid. Sinem Firtina was funded by the Scientific and Technological Research Council of Turkey (TUBITAK) 2211-C National Scholarship Programme for PhD students. This project was supported by Istanbul University Research Fund (project numbers: 52575 and 20499).en_US
dc.identifier.doi10.1007/s00251-017-1005-7
dc.identifier.endpage659en_US
dc.identifier.issn0093-7711
dc.identifier.issn1432-1211
dc.identifier.issue10en_US
dc.identifier.pmid28597365en_US
dc.identifier.scopus2-s2.0-85020388269en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage653en_US
dc.identifier.urihttps://doi.org/10.1007/s00251-017-1005-7
dc.identifier.urihttps://hdl.handle.net/11411/7111
dc.identifier.volume69en_US
dc.identifier.wosWOS:000410739800002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofImmunogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectSevere Combined İmmunodeficiencyen_US
dc.subjectTargeted-Ngs Panelen_US
dc.subjectCd3een_US
dc.subjectTrec/Krec Analysisen_US
dc.subjectSevere Combined Immunodeficiencyen_US
dc.subjectRecombination Excision Circlesen_US
dc.subjectCell-Receptoren_US
dc.subjectCd3-Epsilon Geneen_US
dc.subjectGuthrie Cardsen_US
dc.subjectDeficiencyen_US
dc.subjectMutationsen_US
dc.subjectQuantificationen_US
dc.subjectIdentificationen_US
dc.subjectExpressionen_US
dc.titleA novel pathogenic frameshift variant of CD3E gene in two T-B plus NK plus SCID patients from Turkeyen_US
dc.typeArticleen_US

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