{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:33:10Z","timestamp":1789540390971,"version":"build-2803163510"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,9,28]],"date-time":"2012-09-28T00:00:00Z","timestamp":1348790400000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Wiskott\u2013Aldrich syndrome (WAS) is a rare X\u2010linked immunodeficiency caused by defects of the WAS protein (<jats:italic>WASP<\/jats:italic>) gene. Patients with WAS typically demonstrate micro\u2010thrombocytopenia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedures<\/jats:title><jats:p>The report describes seven male infants with WAS that initially presented with leukocytosis, monocytosis, and myeloid and erythroid precursors in the peripheral blood (PB) and dysplasia in the bone marrow (BM), which was initially indistinguishable from juvenile myelomonocytic leukaemia (JMML).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median age of affected patients was 1 month (range, 1\u20134 months). Splenomegaly was absent in four of these patients, which was unusual for JMML. A mutation analysis of genes in the RAS\u2010signalling pathway did not support a diagnosis of JMML. Non\u2010haematological features, such as eczema (n\u2009=\u20097) and bloody stools (n\u2009=\u20096), ultimately led to the diagnosis of WAS at a median age of 4 months (range, 3\u20138 months), which was confirmed by absent (n\u2009=\u20096) or reduced (n\u2009=\u20091) WASP expression in lymphocytes by flow cytometry (FCM) and a <jats:italic>WASP<\/jats:italic> gene mutation. Interestingly, mean platelet volume (MPV) was normal in three of five patients and six of seven patients demonstrated occasional giant platelets, which was not compatible with WAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These data suggest that WAS should be considered in male infants presenting with JMML\u2010like features if no molecular markers of JMML can be detected. Pediatr Blood Cancer 2013; 60: 836\u2013841. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24359","type":"journal-article","created":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T13:34:22Z","timestamp":1349012062000},"page":"836-841","source":"Crossref","is-referenced-by-count":45,"title":["Wiskott\u2013Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia"],"prefix":"10.1002","volume":"60","author":[{"given":"Ayami","family":"Yoshimi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiro","family":"Kamachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Imai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisaya","family":"Nakadate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Kanazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Ozono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoji","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misa","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chie","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asahito","family":"Hama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Muramatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoji","family":"Sasahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Jakob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Niemeyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-115253"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri2724"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1480"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1592"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/85886"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-01-010249"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01645.x"},{"key":"e_1_2_6_10_2","first-page":"82","volume-title":"WHO classification of tumors of haematopoietic and lymphoid tissues","author":"Baumann I","year":"2008"},{"key":"e_1_2_6_11_2","first-page":"3534","article-title":"Chronic myelomonocytic leukemia in childhood: A retrospective analysis of 110 cases. 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