{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:13:13Z","timestamp":1787069593701,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,7,3]],"date-time":"2014-07-03T00:00:00Z","timestamp":1404345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We analyzed a nationwide registry of pediatric patients with hemophagocytic lymphohistiocytosis (<jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>) in Korea to assess the clinical and genetic features and treatment outcomes in pediatric <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The Korea Histiocytosis Working Party retrospectively analyzed data on 251 pediatric patients diagnosed with <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content> between 1996 and 2011.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the study cohort, 25 cases were categorized with familial <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>, 64 with presumed secondary <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>, and 162 with unspecified <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>. Of 217 evaluable patients, 91 (42%) had concomitant Epstein\u2013Barr virus infection. Of 238 evaluable patients, central nervous system (<jats:styled-content style=\"fixed-case\">CNS<\/jats:styled-content>) involvement, which was more frequent in the familial group, was evident in 81 cases (34%). Genetic tests revealed a predominant <jats:italic><jats:styled-content style=\"fixed-case\">UNC<\/jats:styled-content>13D<\/jats:italic> mutation with a high incidence of two recurrent splicing mutations (c.118\u2010308C&gt;T and c.754\u20101G&gt;C). The 5\u2010yr overall survival rate was 68% (38% in the familial group and 81% in the presumed secondary group). The 5\u2010yr overall survival rate among 32 patients who underwent allogeneic hematopoietic stem cell transplantation was 64%. In multivariate analysis, a younger age at diagnosis, severe transaminasemia, and a coagulation abnormality were independent prognostic factors for survival. Responses during initial treatments were also significant indicators of outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study showed the unique predominance of a <jats:italic><jats:styled-content style=\"fixed-case\">UNC<\/jats:styled-content>13D<\/jats:italic> mutation and vulnerability to Epstein\u2013Barr virus infection in Korean children with <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content> and emphasizes the prognostic significance of age, liver dysfunction, and treatment responses in this disease. A multicenter prospective trial that builds on the present results is warranted to identify subgroups of patients with a poor prognosis and identify optimal treatments.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12399","type":"journal-article","created":{"date-parts":[[2014,6,17]],"date-time":"2014-06-17T10:56:39Z","timestamp":1403002599000},"page":"51-59","source":"Crossref","is-referenced-by-count":72,"title":["Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in <scp>K<\/scp>orea: report of a nationwide survey from <scp>K<\/scp>orea <scp>H<\/scp>istiocytosis <scp>W<\/scp>orking <scp>P<\/scp>arty"],"prefix":"10.1111","volume":"94","author":[{"given":"Kyung\u2010Nam","family":"Koh","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology Department of Pediatrics Asan Medical Center Children's Hospital University of Ulsan College of Medicine Seoul 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