Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation
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We report a 30-year-old male with a novel WAS mutation (c.252C > A, p.F84L) who was misdiagnosed with immune thrombocytopenia (ITP) for years. Despite persistent thrombocytopenia, his mean platelet volume remained normal, an atypical feature of Wiskott-Aldrich... ...
