{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T12:34:53Z","timestamp":1770294893690,"version":"3.49.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004006","name":"Bilimsel Ara\u015ftirma Projeleri Birimi, Istanbul \u00dcniversitesi","doi-asserted-by":"publisher","award":["52575"],"award-info":[{"award-number":["52575"]}],"id":[{"id":"10.13039\/501100004006","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004006","name":"Bilimsel Ara\u015ftirma Projeleri Birimi, Istanbul \u00dcniversitesi","doi-asserted-by":"publisher","award":["20499"],"award-info":[{"award-number":["20499"]}],"id":[{"id":"10.13039\/501100004006","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Severe 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\u2010generation 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\u2010based targeted NGS panel, which contained 18 most common SCID\u2010related genes, was contumely made to screen the patients (<jats:italic>n<\/jats:italic>\u00a0=\u00a038) with typical SCID, atypical SCID or OMENN syndrome. Allelic segregations were confirmed for the detected gene variants within the families. In total, 24 disease\u2010causing variants (17 known and 7 novel) were identified in 23 patients in 9 different SCID genes: <jats:italic>RAG1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a05), <jats:italic>RAG2<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>ADA<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a03), <jats:italic>DCLRE1C<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>NHEJ1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>CD3E<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>IL2RG<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a03)<jats:italic>, JAK3<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a04) and <jats:italic>IL7R<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01)<jats:italic>.<\/jats:italic> The overall success rate of our custom\u2010made NGS panel was 60% (39.3% for NK+ SCID and 100% for NK\u2212 SCID). Incidence of autosomal\u2010recessive 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\u2010made sequencing panel was able to identify and confirm the previously known and novel disease\u2010causing variants with high accuracy.<\/jats:p>","DOI":"10.1111\/iji.12496","type":"journal-article","created":{"date-parts":[[2020,5,23]],"date-time":"2020-05-23T06:53:27Z","timestamp":1590216807000},"page":"529-538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Mutational landscape of severe combined immunodeficiency patients from Turkey"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3370-8545","authenticated-orcid":false,"given":"Sinem","family":"Firtina","sequence":"first","affiliation":[{"name":"Department of Genetics Aziz Sancar Institute of Experimental Medicine Istanbul University Istanbul Turkey"},{"name":"Department of Molecular Biology and Genetics, Art and Science Faculty Istinye University Istanbul 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