{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:50:23Z","timestamp":1740138623556,"version":"3.37.3"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,7,15]],"date-time":"2014-07-15T00:00:00Z","timestamp":1405382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81302598"],"award-info":[{"award-number":["81302598"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked lymphoproliferative syndrome type 1 (XLP1) is a rare inherited, life\u2010threatening immunodeficiency disorder caused by mutations in <jats:italic>SH2D1A<\/jats:italic> gene. It affect approximately two to three males per million. Fewer than 10 cases with definite gene mutations have been reported in Chinese mainland and no rapid diagnosis method has been established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>We determined the clinical and molecular characteristics of five patients with XLP1. The <jats:italic>SH2D1A<\/jats:italic> gene were amplified by PCR and sequenced, the SAP expression was analyzed by flow cytometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patients had novel <jats:italic>SH2D1A<\/jats:italic> mutations and three had mutations that have been previously reported. Three patients presented with fulminant infectious mononucleosis or hemophagocytic lymphohistiocytosis and one presented with lymphoma. Null or decreased SAP expression on PBMCs was noted. The remaining patient presented with unique, recurrent, nonfulminant infectious mononucleosis and bimodal intracellular SAP protein expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The overall molecular characteristics and clinical phenotypes of Chinese patients with XLP1 matched previous reports. The unique bimodal intracellular SAP protein expression indicated the presence of some residual SAP\u2010positive T cells that are able to respond to persistent Epstein\u2013Barr virus infection and could explain the relatively mild clinical phenotype of this patient. Pediatr Blood Cancer 2014;61:2043\u20132047. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25126","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T02:01:15Z","timestamp":1405476075000},"page":"2043-2047","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and molecular characteristics of Chinese patients with X\u2010linked lymphoproliferative syndrome type 1"],"prefix":"10.1002","volume":"61","author":[{"given":"Yun\u2010Fei","family":"An","sequence":"first","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"},{"name":"Division of Immunology Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Bo","family":"Luo","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Yang","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Dong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing China"},{"name":"Division of Immunology Children's Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,15]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"3118","article-title":"Correlation of mutations of the SH2D1A gene and Epstein\u2013Barr virus infection with clinical phenotype and outcome in X\u2010linked lymphoproliferative disease","volume":"96","author":"Sumegi J","year":"2000","journal-title":"Blood"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199510000-00001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05257"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-03-275909"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1202"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20042432"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni0901-823"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08442.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-06-284935"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/26683"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20261"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22185"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V98.5.1321"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.4.1131"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-09-3651"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(88)90278-1"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2009.10.012"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.9.2896"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199611213352104"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-03-0846"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001187"}],"container-title":["Pediatric Blood &amp; 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