X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.

[wiskott-aldrich syndrome]

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 .