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X‐linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations
Author(s) -
Mantadakis Elpis,
SawalleBelohradsky Julie,
Tzanoudaki Marianna,
Kanariou Maria,
Chatzimichael Athanassios,
Albert Michael H.
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25196
Subject(s) - platelet , medicine , immune thrombocytopenia , gene , mutation , immune system , immunology , genetics , biology
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.