{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:03:07Z","timestamp":1773248587150,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,12,26]],"date-time":"2012-12-26T00:00:00Z","timestamp":1356480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiskott\u2013<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ldrich syndrome (<jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content>) is an <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked recessive primary immunodeficiency disorder caused by mutations in the gene encoding the <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> protein (<jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content>). Classic <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> is characterized by thrombocytopenia with small\u2010sized platelets, recurrent infections, eczema and increased susceptibility to autoimmune diseases and haematologic malignancies. Here, we reported on seven unrelated Thai individuals with classic <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content>. In addition to clinical and immunologic characterization, mutation analysis by <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\u2010sequencing the entire coding region of <jats:italic><jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content><\/jats:italic> was performed. Recurrent and novel mutations were successfully identified. A nonsense mutation, the c.55<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> (p.<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>19<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>), has not been previously described, expanding the mutational spectrum of <jats:italic><jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content><\/jats:italic>. The patient with this newly described mutation developed cow's milk allergy manifesting as angioedema and urticaria and had cytomegalovirus infection that was successfully treated with long\u2010term ganciclovir. This study reported long\u2010term follow\u2010up of seven patients with molecular confirmation of <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> and infrequent features in the patient with classic <jats:styled-content style=\"fixed-case\">WAS<\/jats:styled-content> carrying the novel nonsense mutation.<\/jats:p>","DOI":"10.1111\/sji.12004","type":"journal-article","created":{"date-parts":[[2012,10,3]],"date-time":"2012-10-03T15:53:15Z","timestamp":1349279595000},"page":"69-74","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and Molecular Characterization of Thai Patients with Wiskott\u2013Aldrich Syndrome"],"prefix":"10.1111","volume":"77","author":[{"given":"P.","family":"Amarinthnukrowh","sequence":"first","affiliation":[{"name":"Interdepartment Program of Biomedical Sciences Faculty of Graduate School Chulalongkorn University Bangkok Thailand"},{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ittiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Chatchatee","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Sosothikul","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,12,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.13.2.133"},{"key":"e_1_2_6_3_1","first-page":"922","article-title":"Isolation of a novel gene mutated in Wiskott\u2010Aldrich syndrome","volume":"79","author":"Derry 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