{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:48Z","timestamp":1762001628396},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"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":[[2005,7]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> The Wiskott\u2013Aldrich syndrome is a rare genetic disorder due to mutations in the <jats:italic>WAS<\/jats:italic> gene situated on chromosome X. It is comprised of microthrombocytopenia, eczema and immunodeficiency. However, the phenotypical presentation may vary as to the number and intensity of its manifestations. A milder form of Wiskott\u2013Aldrich syndrome is known as the X\u2010linked thrombocytopenia. We independently found eight individual or familial cases with the V75M substitution (9.76%). This high incidence was partly accounted for by the fact that three cases turned out to be related. The V75M mutation is recurrent, however, due to a CpG island. A genuine homozygous female patient was found. She showed microthrombocytopenia and infections to the same degree as her hemizygous father and brother. The WAS protein was decreased in a comparable fashion in the hemizygotes and the homozygote as well. Its amount was about 10% and 15% of normal in platelets and mononucleated white cells, respectively. In all patients was the picture consistent with XLT.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2005.00415.x","type":"journal-article","created":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T16:37:08Z","timestamp":1118248628000},"page":"54-59","source":"Crossref","is-referenced-by-count":6,"title":["Recurrent V75M mutation within the Wiskott\u2013Aldrich syndrome protein: description of a homozygous female patient"],"prefix":"10.1111","volume":"75","author":[{"given":"Alexis","family":"Proust","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beno\u00eet","family":"Guillet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Pellier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petronela","family":"Rachieru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyrille","family":"Hoarau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9gol\u00e8ne","family":"Claeyssens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"L\u00e9onard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Charrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Vainchenker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil","family":"Tchernia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Delaunay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"332","article-title":"The Wiskott\u2013Aldrich syndrome","volume":"35","author":"Ochs HD.","year":"1998","journal-title":"Semin Hematol"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-414"},{"key":"e_1_2_7_5_2","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797","article-title":"The Wiskott\u2013Aldrich syndrome and X\u2010linked congenital microthrombocytopenia are caused by mutations of the same gene","volume":"86","author":"Zhu Q","year":"1995","journal-title":"Blood"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri884"},{"key":"e_1_2_7_7_2","doi-asserted-by":"crossref","unstructured":"JinY MazzaC ChristieJR et\u00a0al.Mutations of the Wiskott\u2013Aldrich protein (WASP): hot spots effect on transcription and translation and phenotype\/genotype correlation. 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