{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T09:34:47Z","timestamp":1748511287716},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,10,18]],"date-time":"2014-10-18T00:00:00Z","timestamp":1413590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deletion mutations of <jats:italic><jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content><\/jats:italic> are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a 5\u2010month\u2010old boy with a large deletion mutation in\u00a0<jats:italic><jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content><\/jats:italic> that completely abolished protein expression. To localize the deletion, a 2816\u2010bp\u2010length sequence that spans between exons 9 and 12 was amplified. <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> amplification of the patient's sample revealed a single band of about 1\u00a0kb in contrast to the 2816\u2010bp\u2010amplicon in the control. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing of the patient revealed a 1595\u2010bp\u2010deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of <jats:italic><jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content><\/jats:italic> resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11.<\/jats:p>","DOI":"10.1111\/ejh.12424","type":"journal-article","created":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T07:48:17Z","timestamp":1406879297000},"page":"93-98","source":"Crossref","is-referenced-by-count":5,"title":["A novel large deletion and single nucleotide insertion in the Wiskott\u2013Aldrich syndrome protein gene"],"prefix":"10.1111","volume":"95","author":[{"given":"Vera","family":"Gul\u00e1csy","sequence":"first","affiliation":[{"name":"Department of Infectious Diseases and Pediatric Immunology Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Be\u00e1ta","family":"Solt\u00e9sz","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases and Pediatric Immunology Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Petrescu","sequence":"additional","affiliation":[{"name":"Department of Public Health School of Medicine V. Babe\u015f University of Medicine &amp; Pharmacy Timi\u015foara Timi\u015foara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihaela","family":"Bataneant","sequence":"additional","affiliation":[{"name":"Department of Public Health School of Medicine V. Babe\u015f University of Medicine &amp; Pharmacy Timi\u015foara Timi\u015foara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edit","family":"Gyimesi","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology Institute of Internal Medicine Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margit","family":"Serban","sequence":"additional","affiliation":[{"name":"Department of Public Health School of Medicine V. Babe\u015f University of Medicine &amp; Pharmacy Timi\u015foara Timi\u015foara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Mar\u00f3di","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases and Pediatric Immunology Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Be\u00e1ta","family":"T\u00f3th","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases and Pediatric Immunology Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.10.007"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f30448"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2009.1.132"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri2724"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.moh.0000168520.98990.19"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20081773"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI29539"},{"key":"e_1_2_7_9_1","first-page":"37","article-title":"Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott\u2010Aldrich syndrome","volume":"23","author":"Taylor MD","year":"2010","journal-title":"Sci Transl Med"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-12-322834"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-010-9381-x"},{"key":"e_1_2_7_13_1","first-page":"132","article-title":"Distribution and clinical aspects of primary immunodeficiencies in a Taiwan Pediatric Tertiary Hospital during a 20\u2010year period","volume":"25","author":"Lee WI","year":"2005","journal-title":"J Clin Immunol"},{"key":"e_1_2_7_14_1","first-page":"276","article-title":"Molecular diagnosis of Wiskott\u2010Aldrich syndrome in Taiwan","volume":"34","author":"Chien YH","year":"2004","journal-title":"J Microbiol Immunol Infect"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0716-4"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1998.4557"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1480"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:4<310::AID-HUMU7>3.0.CO;2-K"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2010.11.013"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9013"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-5699(96)80901-7"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1999.0247"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0328-7"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2008.23.1.146"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.12424","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.12424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T07:33:23Z","timestamp":1696404803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.12424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,18]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/ejh.12424"],"URL":"https:\/\/doi.org\/10.1111\/ejh.12424","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,18]]}}}