{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T20:29:13Z","timestamp":1767990553660,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T00:00:00Z","timestamp":1210636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:p>Wiskott\u2013Aldrich syndrome (WAS) is an X\u2010linked primary immunodeficiency disorder associated with microthrombocytopenia, eczema, autoimmunity and predisposition to malignant lymphoma. Although rare, few cases of somatic mosaicism have been published in WAS patients to date. We here report on two Ukrainian siblings who were referred to us at the age of 3 and 4\u2003years, respectively. Both patients suffered from severe WAS caused by a nonsense mutation in exon 1 of the <jats:italic>WAS <\/jats:italic>gene. In both siblings, flow cytometric analysis revealed the presence of Wiskott\u2013Aldrich syndrome protein (WASp)\u2010positive and WASp\u2010negative cell populations among T and B lymphocytes as well as natural killer (NK) cells. In contrast to previously described cases of revertant mosaicism in WAS, molecular analyses in both children showed that the WASp\u2010positive T cells, B cells, and NK cells carried multiple different second\u2010site mutations, resulting in different missense mutations. To our knowledge, this is the first report describing somatic mosaicism in WAS patients caused by several independent second\u2010site mutations in the <jats:italic>WAS <\/jats:italic>gene.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01019.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:13:50Z","timestamp":1232705630000},"page":"68-74","source":"Crossref","is-referenced-by-count":36,"title":["Multiple independent second\u2010site mutations in two siblings with somatic mosaicism for Wiskott\u2013Aldrich syndrome"],"prefix":"10.1111","volume":"74","author":[{"given":"K","family":"Boztug","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Germeshausen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Avedillo D\u00edez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Gulacsy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Diestelhorst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ballmaier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Welte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Mar\u00f3di","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LI","family":"Chernyshova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,5,13]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri884"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2006.02.005"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-04-1678"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.8.5245"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20308"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15485"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.151260498"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-12-4724"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.11222"},{"key":"e_1_2_6_11_2","first-page":"390","article-title":"Development of hematopoietic stem cell gene therapy for Wiskott\u2010Aldrich syndrome","volume":"8","author":"Boztug K","year":"2006","journal-title":"Curr Opin Mol Ther"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1940"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-05-1423"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2006.04.021"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(01)00162-5"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-290"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199611213352104"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-08-039057"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-10-3655"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1592"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.01019.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.01019.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T09:02:56Z","timestamp":1696928576000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.01019.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,13]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1111\/j.1399-0004.2008.01019.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01019.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,13]]}}}