{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T22:46:18Z","timestamp":1789685178753,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T00:00:00Z","timestamp":1357516800000},"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":[[2013,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thrombotic thrombocytopenic purpura (<jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content>) has not yet been reported to be associated with mutations in the <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>iskott\u2013<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ldrich syndrome (<jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content>) gene. <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> is an <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked recessive disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. A broad spectrum of mutations in the <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> protein (<jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content>) gene have been identified as causing the disease. In this study, we report on a 2\u2010month\u2010old <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese boy who presented with cytomegalovirus (<jats:styled-content style=\"fixed-case\">CMV<\/jats:styled-content>) infection and <jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content>. The activity of von <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>illebrand factor cleaving metalloproteinase, <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 was low and the antibody against <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 was positive (3.6\u00a0<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>ethesda U\/mL). Although <jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content> was improved by plasma exchange and steroid pulse therapy, thrombocytopenia persisted and regular transfusions of irradiated platelets were needed. Tiny platelets were found on a peripheral blood smear. <jats:styled-content style=\"fixed-case\">CMV<\/jats:styled-content> genome was positive in peripheral blood by polymerase chain reaction and the <jats:styled-content style=\"fixed-case\">CMV<\/jats:styled-content> viremia continued to persist despite intravenous gancyclovir therapy. Through direct sequencing of genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> of the <jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content> gene in the patient, we identified a novel mutation of <jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content> gene: the seventh nucleotide in exon 11 (<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>) had been deleted (1345del<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>). This mutation causes a frameshift and a stop codon at amino acid 470. Western blotting demonstrated a truncated <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> protein. To our knowledge, this is the first report describing <jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> patients with novel mutation in the <jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content> gene.<\/jats:p>","DOI":"10.1111\/ejh.12057","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T19:33:34Z","timestamp":1355427214000},"page":"164-168","source":"Crossref","is-referenced-by-count":8,"title":["A novel Wiskott\u2013Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura"],"prefix":"10.1111","volume":"90","author":[{"given":"Yukako","family":"Kawasaki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidemi","family":"Toyoda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoichiro","family":"Otsuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Iwasa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shotaro","family":"Iwamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Azuma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mie University Tsu Mie Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Itoh\u2010Habe","sequence":"additional","affiliation":[{"name":"Department of Molecular Laboratory Medicine Mie 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