{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T00:27:05Z","timestamp":1793060825019,"version":"4.5.0"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T00:00:00Z","timestamp":1695081600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Hacettepe University Coordination Unit for Scientific Research Projects","award":["TSA-2016-9087"],"award-info":[{"award-number":["TSA-2016-9087"]}],"id":[{"id":"https:\/\/ror.org\/04kwvgz42","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Recombination activating genes (RAG)1 and RAG2 deficiency leads to combined T\/B-cell deficiency with varying clinical presentations. This study aimed to define the clinical\/laboratory spectrum of RAG1 and RAG2 deficiency. We retrospectively reviewed the clinical\/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. The male\/female ratio was 23\/12. Median age of clinical manifestations was 1 months (mo) (0.5\u20132), 2 mo (1.25\u20135), and 14 mo (3.63\u201327), age at diagnosis was 4 mo (3\u20136), 4.5 mo (2.5\u20139.75), and 27 mo (14.5\u201370) in SCID (n = 25; 71.4%), OS (n = 5; 14.3%), and CID (n = 5; 14.3%) patients, respectively. Common clinical manifestations were recurrent sinopulmonary infections 82.9%, oral moniliasis 62.9%, diarrhea 51.4%, and eczema\/dermatitis 42.9%. Autoimmune features were present in 31.4% of the patients; 80% were in CID patients. Lymphopenia was present in 92% of SCID, 80% of OS, and 80% of CID patients. All SCID and CID patients had low T (CD3, CD4, and CD8), low B, and increased NK cell numbers. Twenty-eight patients underwent hematopoietic stem cell transplantation (HSCT), whereas seven patients died before HSCT. Median age at HSCT was 7 mo (4\u201313.5). Survival differed in groups; maximum in SCID patients who had an HLA-matched family donor, minimum in OS. Totally 19 (54.3%) patients survived. Early molecular genetic studies will give both individualized therapy options, and a survival advantage because of timely diagnosis and treatment. Further improvement in therapeutic outcomes will be possible if clinicians gain time for HSCT.<\/jats:p>","DOI":"10.1093\/cei\/uxad110","type":"journal-article","created":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T08:16:54Z","timestamp":1694938614000},"page":"160-176","source":"Crossref","is-referenced-by-count":10,"title":["Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre"],"prefix":"10.1093","volume":"215","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8383-6350","authenticated-orcid":false,"given":"Betul","family":"Karaatmaca","sequence":"first","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"},{"name":"Department of Pediatric Allergy and Immunology, University of Health Sciences, Ankara Bilkent City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2213-4627","authenticated-orcid":false,"given":"Deniz","family":"Cagdas","sequence":"additional","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"},{"name":"Section of Pediatric Immunology, Institute of Child Health, Hacettepe University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saliha","family":"Esenboga","sequence":"additional","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baran","family":"Erman","sequence":"additional","affiliation":[{"name":"Section of Pediatric Immunology, Institute of Child Health, Hacettepe University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cagman","family":"Tan","sequence":"additional","affiliation":[{"name":"Section of Pediatric Immunology, Institute of Child Health, Hacettepe University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuba","family":"Turul Ozgur","sequence":"additional","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaan","family":"Boztug","sequence":"additional","affiliation":[{"name":"St. Anna Children\u2019s Cancer Research Institute (CCRI) , Vienna , Austria"},{"name":"CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences , Vienna , Austria"},{"name":"Medical University of Vienna, Department of Pediatrics and Adolescent Medicine , Vienna , Austria"},{"name":"Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases , Vienna , Austria"},{"name":"St. Anna Children\u2019s Hospital , Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"van der Burg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center , Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Sanal","sequence":"additional","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilhan","family":"Tezcan","sequence":"additional","affiliation":[{"name":"Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology , Ankara , Turkey"},{"name":"Section of Pediatric Immunology, Institute of Child Health, Hacettepe University 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