Rare Diseases Symptoms Automatic Extraction

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.

Diseases presenting "long-standing thrombocytopenia" symptom

  • wiskott-aldrich syndrome

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