Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants

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dc.authoridGulez, Nesrin/0000-0002-3343-6949
dc.authoridKIYKIM, Ayca/0000-0001-5821-3963
dc.authoridAYKUT, Ayça/0000-0002-1460-0053
dc.authorscopusid16038685000
dc.authorscopusid32867707600
dc.authorscopusid15762370000
dc.authorscopusid6505602921
dc.authorscopusid56400732000
dc.authorscopusid25957914800
dc.authorscopusid7005581623
dc.authorwosidGulez, Nesrin/AFF-7478-2022
dc.authorwosidKIYKIM, Ayca/J-6400-2017
dc.authorwosidÇelmeli, Fatih/HGC-5173-2022
dc.authorwosidAYKUT, Ayça/ABH-6257-2020
dc.contributor.authorAykut, Ayca
dc.contributor.authorDurmaz, Asude
dc.contributor.authorKaraca, Neslihan
dc.contributor.authorGulez, Nesrin
dc.contributor.authorGenel, Ferah
dc.contributor.authorCelmeli, Fatih
dc.contributor.authorOzturk, Gulyuz
dc.date.accessioned2023-01-12T20:02:38Z
dc.date.available2023-01-12T20:02:38Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractHuman Inborn Errors of Immunity (IEIs) are clinically and genetically heterogeneous group of diseases, with relatively mild clinical course or severe types that can be life-threatening. Severe combined immunodeficiency (SCID) is the most severe form of IEIs, which is caused by monogenic defects that impair the proliferation and function of T, B, and NK cells. According to the most recent report by the International Union of Immunological Societies (IUIS), SCID is caused by mutations in IL2RG, JAK3, FOXN1, CORO1A, PTPRC, CD3D, CD3E, CD247, ADA, AK2, NHEJ1, LIG4, PRKDC, DCLRE1C, RAG1 and RAG2 genes. The targeted next-generation sequencing (TNGS) workflow based on Ion AmpliSeq (TM) Primary Immune Deficiency Research Panel was designed for sequencing 264 IEI-related genes on Ion S5 (TM) Sequencer. Herein, we present 21 disease-causing variants (12 novel) which were identified in 22 patients in eight different SCID genes. Next-generation sequencing allowed a rapid and an accurate diagnosis SCID patients.en_US
dc.identifier.doi10.1111/sji.13163
dc.identifier.issn0300-9475
dc.identifier.issn1365-3083
dc.identifier.issue6en_US
dc.identifier.pmid35303369en_US
dc.identifier.scopus2-s2.0-85126854793en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1111/sji.13163
dc.identifier.urihttps://hdl.handle.net/11454/77608
dc.identifier.volume95en_US
dc.identifier.wosWOS:000772237300001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofScandinavian Journal of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectnext-generation sequencingen_US
dc.subjectnovel mutationen_US
dc.subjectsevere combined immunodeficienciesen_US
dc.titleSevere combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variantsen_US
dc.typeArticleen_US

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