{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:17:08Z","timestamp":1789514228859,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,27]],"date-time":"2011-04-27T00:00:00Z","timestamp":1303862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:p>\u00c7a\u011fda\u015f D, \u00d6zg\u00fcr TT, Asal GT, Revy P, De Villartay J\u2010P, van der Burg M, Sanal \u00d6, Tezcan \u0130. Two SCID cases with Cernunnos\u2010XLF deficiency successfully treated by hematopoietic stem cell transplantation.<\/jats:p><jats:p><jats:bold>Abstract:\u2002<\/jats:bold> SCID affects T and B cell differentiation and functions, presenting with severe opportunistic infections in the early postnatal period. It is fatal unless stem cell transplantation is performed. RS SCID forms are caused by defects in the NHEJ pathway, the enzymatic process required for the repair of DNA double\u2010strand breaks. Cernunnos\u2010XLF defect is one of the defects in this pathway. Here, we present two patients with Cernunnos\u2010XLF defect, both having microcephaly, prominent growth retardation, and T\u2010B\u2010NK+SCID, one of whom had AHA. These patients received hematopoietic stem cells from HLA identical related donor without conditioning regimen and recovered without any complication. Now, both of the patients are well and alive seven and one\u2003yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation.<\/jats:p>","DOI":"10.1111\/j.1399-3046.2011.01491.x","type":"journal-article","created":{"date-parts":[[2011,4,28]],"date-time":"2011-04-28T01:23:33Z","timestamp":1303953813000},"source":"Crossref","is-referenced-by-count":27,"title":["Two SCID cases with Cernunnos\u2010XLF deficiency successfully treated by hematopoietic stem cell transplantation"],"prefix":"10.1111","volume":"16","author":[{"given":"Deniz","family":"\u00c7a\u011fda\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuba Turul","family":"\u00d6zg\u00fcr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclten 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