{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:47:44Z","timestamp":1784735264308,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,9,21]],"date-time":"2013-09-21T00:00:00Z","timestamp":1379721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Health, Labour, and Welfare of Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>X\u2010linked thrombocytopenia (XLT) is caused by mutations in the <jats:italic>WAS<\/jats:italic> gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott\u2013Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott\u2013Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia. Pediatr Blood Cancer 2014;61:746\u2013748. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24787","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T01:01:38Z","timestamp":1381539698000},"page":"746-748","source":"Crossref","is-referenced-by-count":7,"title":["Intermittent X\u2010linked thrombocytopenia with a novel <scp>WAS<\/scp> gene mutation"],"prefix":"10.1002","volume":"61","author":[{"given":"Taizo","family":"Wada","sequence":"first","affiliation":[{"name":"Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatsune","family":"Itoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kanazawa Medical University Hospital Uchinada Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Maeba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Toma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo","family":"Niida","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Kanazawa Medical University Hospital Uchinada Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Saikawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kanazawa Medical University Hospital Uchinada Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Yachie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri2724"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-414"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/85886"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.6.2268"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.20170"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1480"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-239087"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.151260498"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.163.11.6314"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.175.2.1329"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0007-1048.2001.03304.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood.V90.7.2680","article-title":"Wiskott\u2013Aldrich syndrome\/X\u2010linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype","volume":"90","author":"Zhu Q","year":"1997","journal-title":"Blood"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24787","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24787","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T16:03:12Z","timestamp":1696521792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24787"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,21]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["10.1002\/pbc.24787"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24787","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,21]]}}}