Mutational landscape of severe combined immunodeficiency patients from Turkey

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dc.contributor.authorFirtina, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNg, Ozden Hatirnaz
dc.contributor.authorKiykim, Ayca
dc.contributor.authorAydiner, Elif
dc.contributor.authorNepesov, Serdar
dc.contributor.authorCamcioglu, Yildiz
dc.date.accessioned2024-02-23T14:24:16Z
dc.date.available2024-02-23T14:24:16Z
dc.date.issued2020
dc.departmentNEÜen_US
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.en_US
dc.description.sponsorshipIstanbul Bilgi University [NGYY-2018.01.0006]; Bilimsel Arastirma Projeleri Birimi, Istanbul Universitesi [52575, 20499]en_US
dc.description.sponsorshipIstanbul Bilgi University, Grant/Award Number: NGYY-2018.01.0006; Bilimsel Arastirma Projeleri Birimi, Istanbul Universitesi, Grant/Award Number: 52575 and 20499en_US
dc.identifier.doi10.1111/iji.12496
dc.identifier.endpage538en_US
dc.identifier.issn1744-3121
dc.identifier.issn1744-313X
dc.identifier.issue6en_US
dc.identifier.pmid32445296en_US
dc.identifier.scopus2-s2.0-85085570854en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage529en_US
dc.identifier.urihttps://doi.org/10.1111/iji.12496
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13882
dc.identifier.volume47en_US
dc.identifier.wosWOS:000534741000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofInternational Journal Of Immunogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectSciden_US
dc.subjectTargeted Next-Generation Sequencingen_US
dc.titleMutational landscape of severe combined immunodeficiency patients from Turkeyen_US
dc.typeArticleen_US

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