{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:12Z","timestamp":1761718092428},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T00:00:00Z","timestamp":1241481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double\u2010strand breaks by non\u2010homologous end\u2010joining. Herein, we report two siblings with LIG4 syndrome with a novel mutation. One of the siblings, who had normocellular marrow, had autologous reconstitution after initial non\u2010myeloablative conditioning and underwent successful second hematopoietic stem cell transplantation after conditioning with busulfan, cyclophosphamide, and anti\u2010thymocyte globulin. Our findings indicate that transplantation with myeloablative conditioning can be used successfully in LIG4 syndrome patients. Pediatr Blood Cancer 2009;53:482\u2013484. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22031","type":"journal-article","created":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T16:25:40Z","timestamp":1241540740000},"page":"482-484","source":"Crossref","is-referenced-by-count":33,"title":["A novel mutation in a family with DNA ligase IV deficiency syndrome"],"prefix":"10.1002","volume":"53","author":[{"given":"Sule","family":"Unal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Cerosaletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duygu","family":"Uckan\u2010Cetinkaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mualla","family":"Cetin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"Gumruk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,5]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00408-7"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01284-5"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90135-3"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(06)00258-2"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/41358"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80147-1"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00309-9"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.12.031"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.2.423.bloodjournal872423"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI26121"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.6.3206"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-5"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200535401"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.18"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22031","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22031","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:00:05Z","timestamp":1697652005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,5]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["10.1002\/pbc.22031"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22031","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,5]]}}}