X‐linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. Issue 12 (23rd August 2014)

• Record Type: Journal Article
• Authors: Mantadakis, Elpis; Sawalle‐Belohradsky, Julie; Tzanoudaki, Marianna; Kanariou, Maria; Chatzimichael, Athanassios; Albert, Michael H.
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 12(2014:Dec.)
• Page Start: 2305
• Page End: 2306
• Publication Date: 2014-08-23
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25196
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc25196-sec-0001" sec-type="section"> <p>The authors describe two young brothers and a 12‐year‐old male with long‐standing thrombocytopenia with normal sized platelets, in whom novel mutations of the WAS gene were identified. Their clinical picture and the in vitro assessment of the T‐cell function were consistent with X‐linked thrombocytopenia (XLT). A high index of suspicion for XLT is required, even in the setting of normal sized platelets for males with affected maternally‐related male family members, and males with moderately severe chronic thrombocytopenia that have failed to respond to treatments that are usually effective for immune thrombocytopenia. Pediatr Blood Cancer 2014;61:2305–2306. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>