Cord blood transplantation combined with rituximab for Wiskott-Aldrich syndrome with autoimmune thrombotic thrombocytopenic purpura

摘要

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder characterized by microthrombocyto-penia, eczema, recurrent infections, and an increased risk of autoimmunity and malignancy.l Patients with typical WAS have a poor prognosis, and the median life expectancy is only 15 years, unless hematologic and immune reconstitution is achieved by hematopoietic cell transplantation (HCT).2'3 Autoimmune throm-botic thrombocytopenic purpura (TTP) is a rare but severe disease of small vessels that is associated with autoantibody-mediated deficiency of a plasma metalloprotease, ADAMTS13 (a disintegrin-like metalloprotease with thrombospondin type 1 motif 13). The introduction of plasma exchange has dramatically changed the natural history of this disease, reducing the mortality from more than 90% to about 10% to 20%.4 Despite intensive plasma exchange, TTP due to anti-ADAMTS13 autoanti-bodies has a high rate of relapse.4 Here, we report a previously unknown association of autoimmune TTP in a patient with WAS who was successfully treated with an unrelated cord blood transplantation (CBT) combined with rituximab before and after transplantation.