{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:49:20Z","timestamp":1791902960469,"version":"4.3.4"},"reference-count":13,"publisher":"American Society of Hematology","issue":"6","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried missense mutations of the WASP gene that allowed substantial protein expression. This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number.<\/jats:p>","DOI":"10.1182\/blood.v99.6.2268","type":"journal-article","created":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T21:48:18Z","timestamp":1033508898000},"page":"2268-2269","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":82,"title":["Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia"],"prefix":"10.1182","volume":"99","author":[{"given":"Lucia D.","family":"Notarangelo","sequence":"first","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Mazza","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Giliani","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"D'Aria","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Gandellini","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Ravelli","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Locatelli","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Nelson","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans D.","family":"Ochs","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021222155580600_B1","first-page":"292","article-title":"The Wiskott-Aldrich syndrome.","volume-title":"Primary Immunodeficiency Diseases: A 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Immunol."},{"key":"2020021222155580600_B8","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/S0167-5699(96)80901-7","article-title":"WASPbase: a database of WAS- and XLT-causing mutations.","volume":"17","author":"Schwarz","year":"1996","journal-title":"Immunol Today."},{"key":"2020021222155580600_B9","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/(SICI)1097-0223(199901)19:1<36::AID-PD458>3.0.CO;2-V","article-title":"Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.","volume":"19","author":"Giliani","year":"1999","journal-title":"Prenat Diagn."},{"key":"2020021222155580600_B10","doi-asserted-by":"crossref","first-page":"2627","DOI":"10.1172\/JCI118712","article-title":"Studies of the expression of the Wiskott-Aldrich syndrome protein.","volume":"97","author":"Stewart","year":"1996","journal-title":"J Clin 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