{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T15:18:16Z","timestamp":1783091896335,"version":"3.54.6"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,10,27]],"date-time":"2013-10-27T00:00:00Z","timestamp":1382832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study, we report the clinical and genetic features of <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese patients with <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked lymphoproliferative syndrome (<jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content>). Male patients with fulminant infectious mononucleosis (<jats:styled-content style=\"fixed-case\">FIM<\/jats:styled-content>), <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>pstein\u2013<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>arr virus (<jats:styled-content style=\"fixed-case\">EBV<\/jats:styled-content>)\u2010associated hemophagocytic lymphohistiocytosis (<jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>) or persistent <jats:styled-content style=\"fixed-case\">EBV<\/jats:styled-content> viremia were enrolled in this study. Direct sequencing was used to detect <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>2D1A\/<jats:styled-content style=\"fixed-case\">XIAP<\/jats:styled-content><\/jats:italic> gene mutations. The patients' clinical features were assessed by retrieval of data from medical records. Twenty\u2010one male patients with <jats:styled-content style=\"fixed-case\">FIM<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> EBV<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content> or persistent <jats:styled-content style=\"fixed-case\">EBV<\/jats:styled-content> viremia were evaluated. Four patients had <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>2D1A<\/jats:italic> mutations, and one patient had an <jats:italic><jats:styled-content style=\"fixed-case\">XIAP<\/jats:styled-content><\/jats:italic> mutation. All five of these patients had symptoms of <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">EBV<\/jats:styled-content> infection. Among the five patients, the youngest one was only 1\u00a0month old at onset. One patient exhibited hypogammaglobulinemia. Of four patients evaluated for immunological function, all exhibited reduced <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>4\/<jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>8 ratios. Three patients had rapid disease progression and died. One patient received haematopoietic stem cell transplantation and is well. The overall clinical phenotypes of Chinese patients with <jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content> matched previous reports. For patients with severe <jats:styled-content style=\"fixed-case\">EBV<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">HLH<\/jats:styled-content>, our results indicate the need to examine the possibility of <jats:styled-content style=\"fixed-case\">XLP<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/sji.12103","type":"journal-article","created":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:08:07Z","timestamp":1376525287000},"page":"463-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and Genetic Features of 5 Chinese Patients with X\u2010linked lymphoproliferative Syndrome"],"prefix":"10.1111","volume":"78","author":[{"given":"J.","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology Children's Hospital of Fudan University Shanghai 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