Mutational landscape of severe combined immunodeficiency patients from Turkey

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dc.contributor.authorFırtına, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorKıykım, Ayça
dc.contributor.authorAydıner, Elif
dc.contributor.authorNepesov, Serdar
dc.contributor.authorCamcıoğlu, Yıldız
dc.contributor.authorSayar, Esra H.
dc.contributor.authorReisli, İsmail
dc.contributor.authorTorun, Selda H.
dc.contributor.authorÇoğurlu, Tuba
dc.contributor.authorUygun, Dilara
dc.contributor.authorEser Şimşek, Işıl
dc.contributor.authorKaya, Ayşenur
dc.contributor.authorÇipe, Funda
dc.contributor.authorÇağdaş, Deniz
dc.contributor.authorYücel, Esra
dc.contributor.authorÇekiç, Şükrü
dc.contributor.authorUygun, Vedat
dc.contributor.authorBarış, Safa
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2020-12-01T07:35:19Z
dc.date.available2020-12-01T07:35:19Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractSevere combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment strategies. We sought to identify the genetic aetiology of various phenotypes of SCIDs and assessed both clinical and immunologic characteristics associated with gene variants. An amplicon-based targeted NGS panel, which contained 18 most common SCID-related genes, was contumely made to screen the patients (n = 38) with typical SCID, atypical SCID or OMENN syndrome. Allelic segregations were confirmed for the detected gene variants within the families. In total, 24 disease-causing variants (17 known and 7 novel) were identified in 23 patients in 9 different SCID genes: RAG1 (n = 5), RAG2 (n = 2), ADA (n = 3), DCLRE1C (n = 2), NHEJ1 (n = 2), CD3E (n = 2), IL2RG (n = 3), JAK3 (n = 4) and IL7R (n = 1). The overall success rate of our custom-made NGS panel was 60% (39.3% for NK+ SCID and 100% for NK- SCID). Incidence of autosomal-recessive inherited genes is more frequently found in our cohort than the previously reported populations probably due to the high consanguineous marriages in Turkey. In conclusion, the custom-made sequencing panel was able to identify and confirm the previously known and novel disease-causing variants with high accuracy.
dc.description.sponsorshipIstanbul Bilgi University; Bilimsel Arastirma Projeleri Birimi, Istanbul Universitesien_US
dc.identifier.citationFırtına, S., Ng, Y. Y., Ng, Ö. H., Kıykım, A., Aydıner, E., Nepesov, S. ... Sayitoğlu, M. (2020). Mutational landscape of severe combined immunodeficiency patients from Turkey. International Journal of Immunogenetics, 47(6), 529-538. https://dx.doi.org/10.1111/iji.12496
dc.identifier.doi10.1111/iji.12496
dc.identifier.endpage538
dc.identifier.issn1744-3121
dc.identifier.issn1744-313X
dc.identifier.issue6
dc.identifier.scopusqualityQ3
dc.identifier.startpage529
dc.identifier.urihttps://dx.doi.org/10.1111/iji.12496
dc.identifier.urihttps://hdl.handle.net/20.500.12511/6064
dc.identifier.volume47
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofInternational Journal of Immunogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectPrimary Immunodeficiency
dc.subjectSCID
dc.subjectTargeted Next-Generation Sequencing
dc.titleMutational landscape of severe combined immunodeficiency patients from Turkey
dc.typeArticle

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