{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T21:38:47Z","timestamp":1771623527345,"version":"3.50.1"},"reference-count":49,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T00:00:00Z","timestamp":1430352000000},"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":["81172878"],"award-info":[{"award-number":["81172878"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Chongqing Excellent Young Scientists Fund","award":["CSCT"],"award-info":[{"award-number":["CSCT"]}]},{"name":"Chongqing Excellent Young Scientists Fund","award":["2008BA5040"],"award-info":[{"award-number":["2008BA5040"]}]},{"name":"New Teacher Fund for Doctor Station of the Ministry of Education","award":["20115503120005"],"award-info":[{"award-number":["20115503120005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Wiskott\u2013Aldrich syndrome (WAS) and X\u2010linked thrombocytopenia (XLT) are caused by mutations of the <jats:italic>WAS<\/jats:italic> gene. The genotype\u2013phenotype association of WAS and XLT have not been fully elucidated. Here, we established the largest database of WAS in China to further determine the potential correlation between genotype and phenotype and long\u2010term outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedures<\/jats:title><jats:p>We collected clinical data of 81 WAS\/XLT patients, analyzed mutations of <jats:italic>WAS<\/jats:italic> gene at the genomic DNA and transcriptional\/translational levels, and quantified three different patterns of WAS protein (WASp) expression in PBMCs by flow cytometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There were 60 unique mutations identified, including 20 novel mutations and eight hotspots, from 75 unrelated families with a total of 81 affected members. Nearly all the patients with XLT had missense mutations and were WASp\u2010positive in the peripheral cells, while only half of the patients with missense mutations exhibited the XLT phenotype and detectable WASp. In contrast, patients with nonsense mutations, deletions, insertions, and complex mutations were WASp\u2010negative and developed the classic WAS phenotype. An equal number of patients with splice anomalies were either WASp\u2010positive or WASp\u2010negative. Long\u2010term survival rates were lower in WASp\u2010negative patients compared to WASp\u2010positive patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The clinical phenotype of classic WAS or milder XLT and long\u2010term outcome are potentially influenced by the effect of these defects on gene transcription and translation. Patients with missense mutations allowing expression of mutated WASp and those with splice anomalies, which result in generation of multiple products, including normal WASp, present the attenuated XLT phenotype and show better prognosis. Pediatr Blood Cancer 2015;62:1601\u20131608. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25559","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T07:25:05Z","timestamp":1430378705000},"page":"1601-1608","source":"Crossref","is-referenced-by-count":33,"title":["Wiskott\u2013Aldrich syndrome\/X\u2010linked thrombocytopenia in China: Clinical characteristic and genotype\u2013phenotype correlation"],"prefix":"10.1002","volume":"62","author":[{"given":"Da\u2010Wei","family":"Liu","sequence":"first","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010Yong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Zhao","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Ping","family":"Jiang","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Wei","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics &amp; Adolescent Medicine LKS Faculty of Medicine University of Hong Kong Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Xia","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Cell Biology &amp; Molecular Genetics University of Maryland College Park Maryland"}],"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 Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,30]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"212","article-title":"Angeborener Morbus Werlhofii?","volume":"68","author":"Wiskott A","year":"1937","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.13.2.133"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82002-5"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1182\/blood.V90.1.70.70_70_75","article-title":"Expression of Wiskott\u2013Aldrich syndrome protein (WASP) gene during hematopoietic differentiation","volume":"90","author":"Parolini O","year":"1997","journal-title":"Blood"},{"key":"e_1_2_6_7_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"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.17.1.905"},{"key":"e_1_2_6_9_1","first-page":"332","article-title":"The Wiskott\u2013Aldrich syndrome","volume":"35","author":"Ochs HD.","year":"1998","journal-title":"Semin Hematol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)92672-X"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-03-076679"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2012.23"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.1993.tb00069.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80133-8"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00916954"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026416017763"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1586\/1744666X.3.5.813"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1480"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00130832-200312000-00003"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1592"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-008-8084-3"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050162"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050285"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-239087"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2010.00996.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797"},{"key":"e_1_2_6_27_1","first-page":"379","article-title":"The Wiskott\u2013Aldrich syndrome","volume":"4","author":"Ochs HD.","year":"2002","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.6.2268"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-414"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/85886"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-01-010249"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1127"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-1759(01)00549-X"},{"key":"e_1_2_6_34_1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1182\/blood.V93.2.756","article-title":"Flow cytometric analysis of Wiskott\u2013Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers","volume":"93","author":"Yamada M","year":"1999","journal-title":"Blood"},{"key":"e_1_2_6_35_1","unstructured":"WASPbase.2012.09.15 Resource of Asian Primary Immunodeficiency Diseases (RAPID). 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