Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: results from a specialized research center for immunodeficiency in Türkiye

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dc.contributor.authorErman, Baran
dc.contributor.authorAba, Ümran
dc.contributor.authorİpşir, Canberk
dc.contributor.authorPehlivan, Damla
dc.contributor.authorAytekin, Caner
dc.contributor.authorÇildir, Gökhan
dc.contributor.authorÇiçek, Begüm
dc.contributor.authorBozkurt, Ceren
dc.contributor.authorTekeoğlu, Sidem
dc.contributor.authorKaya, Melisa
dc.contributor.authorAydoğmuş, Çiğdem
dc.contributor.authorÇipe, Funda
dc.contributor.authorSucak, Gülsan
dc.contributor.authorEltan, Sevgi Bilgiç
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorBarış, Safa
dc.contributor.authorKarakoç-Aydıner, Elif
dc.contributor.authorKıykım, Ayça
dc.contributor.authorKaraatmaca, Betül
dc.contributor.authorKöse, Hülya
dc.contributor.authorKocacık Uygun, Dilara Fatma
dc.contributor.authorÇelmeli, Fatih
dc.contributor.authorArıkoğlu, Tuğba
dc.contributor.authorÖzcan, Dilek
dc.contributor.authorKeskin, Özlem
dc.contributor.authorArık, Elif
dc.contributor.authorSoyak Aytekin, Elif
dc.contributor.authorCesur, Mahmut
dc.contributor.authorKüçükosmanoğlu, Ercan
dc.contributor.authorKılıç, Mehmet
dc.contributor.authorYüksek, Mutlu
dc.contributor.authorBıçakçı, Zafer
dc.contributor.authorEsenboğa, Saliha
dc.contributor.authorAyvaz, Deniz Çağdaş
dc.contributor.authorSefer, Asena Pınar
dc.contributor.authorGüner, Şükrü Nail
dc.contributor.authorKeleş, Sevgi
dc.contributor.authorReisli, İsmail
dc.contributor.authorMuşabak, Uğur
dc.contributor.authorDeveci Demirbaş, Nazlı
dc.contributor.authorHaskoloğlu, Şule
dc.contributor.authorKılıç, Sara Şebnem
dc.contributor.authorMetin, Ayşe
dc.contributor.authorDoğu, Figen
dc.contributor.authorİkincioğulları, Aydan
dc.contributor.authorTezcan, İlhan
dc.date.accessioned2024-07-17T11:58:02Z
dc.date.available2024-07-17T11:58:02Z
dc.date.issued2024en_US
dc.departmentFakülteler, Tıp Fakültesien_US
dc.descriptionOpen access funding provided by the Scientifc and Technological Research Council of Türkiye (TÜBİTAK). The study received support from the “Sucak Candan Biseyler” Foundation and the Clinical Immunology Society, which provided the necessary Whole Exome Sequencing (WES) kits for the research.
dc.description.abstractMolecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in Türkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.en_US
dc.identifier.citationErman, B., Aba, Ü., İpşir, C., Pehlivan, D., Aytekin, C., Çildir, G., Çiçek, B., Bozkurt, C., Tekeoğlu, S., Kaya, M., Aydoğmuş, Ç, Çipe, F., Sucak, G., Eltan, S. B., Özen, A., Barış, S., Karakoç-Aydıner, E., Kıykım, A., Karaatmaca, B., Köse, H., Kocacık Uygun, D. F., Çelmeli, F., Arıkoğlu, T., Özcan, D., Keskin, Ö., Arık, E., Soyak Aytekin, E., Cesur, M., Küçükosmanoğlu, E., Kılıç, M., Yüksek, M., Bıçakçı, Z., Esenboğa, S., Ayvaz, D. Ç., Sefer, A. P., Güner, Ş. N., Keleş, S., Reisli, İ., Musabak, U., Demirbaş, N. D., Haskoloğlu, Ş., Kılıç, S. Ş., Metin, A., Doğu, F., İkincioğulları, A., Tezcan, İ. (2024). Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: results from a specialized research center for immunodeficiency in Türkiye. Journal of Clinical Immunology, 44(7). 10.1007/s10875-024-01759-wen_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue7en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12939/4754
dc.identifier.volume44en_US
dc.identifier.wosWOS:001260687700001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÇipe, Funda
dc.language.isoen
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.isversionof10.1007/s10875-024-01759-wen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.relation.tubitakTUBITAK/SUCAKCANDANBISEYLER/WES
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInborn errors of immunityen_US
dc.subjectGenetic diagnosisen_US
dc.subjectNext generation sequencingen_US
dc.subjectWhole exome sequencingen_US
dc.titleGenetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: results from a specialized research center for immunodeficiency in Türkiye
dc.typeArticle

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