Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation.

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 syndrome (WAS). His course was complicated by stage-5 chronic kidney disease, renal anemia, IgA nephropathy, and recurrent infections. Laboratory tests consistently showed low lymphocyte counts and reduced WAS protein (WASp) levels. After confirming WAS, the original plan of kidney transplantation alone was changed to combined hematopoietic stem cell and kidney transplantation to restore immunity and reduce graft failure risk. This case highlights that WAS can present with normal platelet volume; thus, WAS should be considered in patients with unexplained chronic kidney disease, recurrent infections, and poor ITP therapy response, even without typical microthrombocytopenia.