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Biallelic mutations in these genes result in a broad spectrum of primary immunodeficiency phenotypes, ranging from classical severe combined immunodeficiency (SCID) to combined immunodeficiency, immune dysregulation, autoimmunity, and inflammatory complications. The immunological phenotype varies widely, from T\u2010B\u2010NK+ severe combined immunodeficiency (SCID) to combined immunodeficiency (CID), or near\u2010normal T and B cell counts, and even antibody deficiencies despite preserved pathogen\u2010specific antibody responses. In this cohort, we aimed to characterize the clinical, immunological, and genetic features, as well as the disease course, of patients diagnosed with RAG1 and RAG2 deficiencies.<\/jats:p>","DOI":"10.1111\/sji.70116","type":"journal-article","created":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T03:05:31Z","timestamp":1777086331000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Manifestations and Immunologic Phenotype in Patients With RAG1\/2 Mutations: A Single Centre Experience and Description of A Novel Mutation"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1297-1923","authenticated-orcid":false,"given":"I\u015f\u0131lay","family":"Turan","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology and Allergy Istanbul Basaksehir Cam and Sakura City Hospital  Istanbul 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