{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T21:38:47Z","timestamp":1771623527324,"version":"3.50.1"},"reference-count":27,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,6,20]]},"abstract":"<jats:p>Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad range of disease severity, ranging from classic WAS to X-linked thrombocytopenia and X-linked neutropenia. WAS in some cases can be fatal without haematopoietic stem cell transplantation early in life. In this particular case, we present a novel mutation with a unique presentation. An 18-year-old man incidentally found to have macrothrombocytopenia and neutropenia at 16 years of age later found to be hemizygous for c. 869T&gt;C (p.Ile290Thr) mutation in WAS gene. The late presentation, absence of other manifestations of WAS and presence of macrothrombocytopenia, rather than microthrombocytopenia, which is usually a characteristic finding in WAS, misled the initial diagnosis. On review of literature, this mutation has not been reported as causing WAS.<\/jats:p>","DOI":"10.1136\/bcr-2018-225123","type":"journal-article","created":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T14:07:14Z","timestamp":1531231634000},"page":"bcr-2018-225123","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-9186","authenticated-orcid":false,"given":"Mais","family":"Arwani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prerna","family":"Mewawalla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,7,10]]},"reference":[{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1542\/peds.13.2.133","article-title":"Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea","volume":"13","author":"Aldrich","year":"1954","journal-title":"Pediatrics"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp068209"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.4","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12049"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.5","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1182\/blood.V72.6.1849.1849","article-title":"Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome","volume":"72","author":"Donn\u00e9r","year":"1988","journal-title":"Blood"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-414"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.7","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797","article-title":"The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene","volume":"86","author":"Zhu","year":"1995","journal-title":"Blood"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.8","doi-asserted-by":"publisher","DOI":"10.1038\/85886"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.9","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.aller.2015.11.002","article-title":"Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature","volume":"44","author":"Eghbali","year":"2016","journal-title":"Allergol Immunopathol"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(09)00447-3"},{"key":"2025042705301139000_2018.jul09_2.bcr-2018-225123.11","doi-asserted-by":"crossref","first-page":"183","DOI":"10.2332\/allergolint.11-RAI-0412","article-title":"Wiskott-Aldrich syndrome; 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