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The disease is caused by mutations in the <jats:italic>WAS<\/jats:italic> gene expressed exclusively in hematopoietic cells. WAS protein (WASp) is a multidomain protein that exists in complex with several partners that play important roles in its function. WASp belongs to a family of proteins that relay signals from the surface of the cell to the actin cytoskeleton. Mutations in the <jats:italic>WAS<\/jats:italic> gene have various effects on the level of WASp, which, in turn, correlates with the severity of the disease. In addition to WAS, mutations in the <jats:italic>WAS<\/jats:italic> gene can result in the mild variant X\u2010linked thrombocytopenia, or in X\u2010linked neutropenia, characterized by neutropenia with myelodysplasia. The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor.<\/jats:p>","DOI":"10.1111\/nyas.12049","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T18:54:01Z","timestamp":1364237641000},"page":"26-43","source":"Crossref","is-referenced-by-count":315,"title":["Wiskott\u2010Aldrich syndrome: a comprehensive review"],"prefix":"10.1111","volume":"1285","author":[{"given":"Michel J.","family":"Massaad","sequence":"first","affiliation":[{"name":"Division of Immunology, Boston Children's Hospital, and Department of Pediatrics Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narayanaswamy","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Division of Immunology, Boston Children's Hospital, and Department of Pediatrics Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raif S.","family":"Geha","sequence":"additional","affiliation":[{"name":"Division of Immunology, Boston Children's Hospital, and Department of Pediatrics Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,25]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"212","article-title":"Familiarer, angeborener Morbus Werlhofii","volume":"68","author":"Wiskott A.","year":"1937","journal-title":"Monatsschr. 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