Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene
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X-linked thrombocytopenia (XLT) is a mild form of the Wiskott-Aldrich syndrome (WAS) caused by mutations in the WAS gene. A recent retrospective study of the clinical outcome and molecular basis of a large cohort of XLT patients demonstrated that although overall survival is excellent, event free survival is severely affected with conservative treatment. To answer the question whether hematopoietic stem cell transplantation (HSCT) offers a viable alternative therapeutic option in XLT, we retrospectively investigated the outcome of HSCT in a cohort of 24 XLT patients who received HSCT between 1990 and 2011 at 14 transplant centers in the United States, Italy, Germany, Canada, and Japan. The engraftment rate was 100 % and the overall survival rate was 83.3 %. Of the four non-survivors, 2 underwent splenectomy prior to HSCT and died of sepsis, and two of aspergillus infections associated with severe GVHD. In all but one patient, pretransplant complications were resolved by HSCT. Our data indicate that HSCT following myeloablative conditioning is curative and associated with acceptable risks as a treatment option for XLT.
KeywordsX-linked thrombocytopenia hematopoietic stem cell transplantation Wiskott-Aldrich syndrome
The authors would like to thank the following Japanese physicians who contributed patient data to this study: H. Kanegane (Toyama); H. Kurosawa (Tochigi); A. Morimoto and T. Imamura (Kyoto); M Inoue (Osaka). This study was supported in part by Japan’s Ministry of Health, Labour and Welfare (to TM, SN), the DeJoria Wiskott-Aldrich Research Fund (to HDO) and by Biotest AG, Dreieich, Germany (to MHA).
K.O. and K.I. collected and analyzed data, and drafted the paper; K.I., H.D.O and S.N. designed and supervised research and revised the manuscript critically for important intellectual content; M.H.A. and L.D.N. submitted data, contributed to the interpretation of data, and revised the manuscript; and T.C.B., G.S., A.H.F., T.M., N.K, J.D., K.R.S., J.T.C. submitted data and contributed to interpretation of data. All authors participated sufficiently in the work to take public responsibility for the content, and gave final approval for publication.
Disclosure of Conflicts of Interest
The authors have no conflict of interest to disclose.
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