{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T17:06:28Z","timestamp":1790096788995,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T00:00:00Z","timestamp":1647993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Human 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\u2010threatening. 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\n                    <jats:italic>IL2RG, JAK3, FOXN1, CORO1A, PTPRC, CD3D, CD3E, CD247, ADA, AK2, NHEJ1, LIG4, PRKDC, DCLRE1C, RAG1 and RAG2<\/jats:italic>\n                    genes. The targeted next\u2010generation sequencing (TNGS) workflow based on Ion AmpliSeq\u2122 Primary Immune Deficiency Research Panel was designed for sequencing 264 IEI\u2010related genes on Ion S5\u2122 Sequencer. Herein, we present 21 disease\u2010causing variants (12 novel) which were identified in 22 patients in eight different SCID genes. Next\u2010generation sequencing allowed a rapid and an accurate diagnosis SCID patients.\n                  <\/jats:p>","DOI":"10.1111\/sji.13163","type":"journal-article","created":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T16:54:50Z","timestamp":1647622490000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1460-0053","authenticated-orcid":false,"given":"Ayca","family":"Aykut","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Ege University  Bornova, Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asude","family":"Durmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Ege 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