Haematopoietic stem cell transplant for Wiskott-Aldrich syndrome

Abstract

We reviewed retrospectively 7 Chinese children diagnosed with Wiskott-Aldrich syndrome (WAS) and managed at the Department of Paediatrics & Adolescent Medicine of Queen Mary Hospital from 1988 to 2005. All patients presented with the classical triad of bleeding tendency, recurrent infections and infantile eczema from neonatal period to 2-3 months of age. The median lag time between diagnosis and presentation was 7 months. Thrombocytopenia and small platelet volume were consistent findings and present in all patients. Findings in immunoglobulin level, lymphocyte subset and lymphocyte proliferative studies were heterogeneous. Four mutations were found in 5 (2 cousins shared the same mutation). Haematopoietic stem cell transplant (HSCT) had been performed for all patients. All 7 had complete immune reconstitution with no major long-term complications in a median follow-up of 9.3 years. Early diagnosis and selection of appropriate donor for HSCT were important strategies for improved survival of patients with WAS.