Hematopoietic stem cell transplantation for patients with Wiskott-Aldrich syndrome

Background: Wiskott-Aldrich syndrome (WAS) is an X linked congenital disease that presents as eczema, thrombocytopenia and immune deficiency. The only curative procedure for this illness is hematopoietic stem cell transplant (HSCT), preferably from a healthy HLA identical sibling donor. Cord blood is becoming an excellent alternative as stem cell source from unrelated donors. Aim: To report our experience with HSCT in children with WAS. Patients and methods: Six boys with WAS diagnosed at 1 to 6 months of age were transplanted at our institution. All of them developed eczema and thrombocytopenia. Two had episodes of severe bleeding and three had repetitive infections (two with recurrent pulmonary infections and one a recurrent otitis). Three patients had a positive family history. Two received HSCT from sibling donors and four from unrelated cord blood donors at 7 months to 4 years of age. Results: All 6 patients had full hematopoietic engraftment after transplantation. Three had mild chronic graft-versus-host disease which responded to immune suppressive therapy. One patient died of cytomegalovirus related pneumonia 111 days after grafting. The other 5 patients are alive and healthy 11 to 104 months after transplantation. Conclusions: HSCT is an effective treatment for patients with WAS. The procedures should be done as soon as diagnosis is confirmed and before life threatening infections occur (Rev Med Chile 2007; 135: 917-23).