Conflict of interest: Nothing to declare.
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation
Article first published online: 21 SEP 2013
© 2013 Wiley Periodicals, Inc.
Pediatric Blood & Cancer
Volume 61, Issue 4, pages 746–748, April 2014
How to Cite
Wada, T., Itoh, M., Maeba, H., Toma, T., Niida, Y., Saikawa, Y. and Yachie, A. (2014), Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. Pediatr. Blood Cancer, 61: 746–748. doi: 10.1002/pbc.24787
- Issue published online: 6 FEB 2014
- Article first published online: 21 SEP 2013
- Manuscript Accepted: 28 AUG 2013
- Manuscript Received: 26 JUL 2013
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Labour, and Welfare of Japan
- intermittent thrombocytopenia;
- missense mutation;
- Wiskott–Aldrich syndrome;
- X-linked thrombocytopenia
X-linked thrombocytopenia (XLT) is caused by mutations in the WAS gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott–Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott–Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia. Pediatr Blood Cancer 2014;61:746–748. © 2013 Wiley Periodicals, Inc.