{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:41:32Z","timestamp":1761986492477},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"4","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["Acta Microbiologica et Immunologica Hungarica"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:p>Severe combined immune deficiency (SCID) is a group of genetic disorder associated with development of T- and\/or B-lymphocytes. <jats:italic>Recombination-activating genes (RAG1\/2)<\/jats:italic> play a critical role on VDJ recombination process that leads to the production of a broad T-cell receptor (TCR) and B-cell receptor (BCR) repertoire in the development of T and B cells. <jats:italic>RAG1\/2<\/jats:italic> genes mutations result in various forms of primary immunodeficiency, ranging from classic SCID to Omenn syndrome (OS) to atypical SCID with such as granuloma formation and autoimmunity. Herein, we reported 4 patients with RAG1 deficiency: classic SCID was seen in two patients who presented with recurrent pneumonia and chronic diarrhoea, and failure to thrive. OS was observed in one patient who presented with chronic diarrhoea, skin rash, recurrent lower respiratory infections, and atypical SCID was seen in one patient who presented with Pyoderma gangrenosum (PG) and had novel RAG1 mutation.<\/jats:p>","DOI":"10.1556\/030.62.2015.4.4","type":"journal-article","created":{"date-parts":[[2015,12,21]],"date-time":"2015-12-21T18:51:06Z","timestamp":1450723866000},"page":"393-401","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":9,"title":["Three faces of recombination activating gene 1 (RAG1) mutations"],"prefix":"10.1556","volume":"62","author":[{"given":"Turkan","family":"Patiroglu","sequence":"first","affiliation":[{"name":"1Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey"},{"name":"2Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Himmet Haluk","family":"Akar","sequence":"additional","affiliation":[{"name":"1Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirjam","family":"Van Der Burg","sequence":"additional","affiliation":[{"name":"3Department of Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Acta Microbiologica et Immunologica Hungarica"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/030\/62\/4\/article-p393.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/030\/62\/4\/article-p393.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T11:51:32Z","timestamp":1614599492000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/030\/62\/4\/article-p393.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":0,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1556\/030.62.2015.4.4","relation":{},"ISSN":["1217-8950","1588-2640"],"issn-type":[{"value":"1217-8950","type":"print"},{"value":"1588-2640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12]]}}}