HSCT in Wiskott-Aldrich Syndrome

Abstract

Introduction Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder primarily affecting males, characterized by a combination of immunodeficiency, thrombocytopenia, and eczema. This condition is caused by a mutation in the WASP gene, which is essential for the proper functioning of immune cells. HSCT remains the treatment of choice for severe forms of the disease, enabling the restoration of immune function. The aim of this study was to evaluate the outcomes after HSCT in children with Wiskott-Aldrich syndrome. Methods This is a retrospective descriptive study including children with WAS who underwent HSCT. Results Five boys with WAS were included. The age at diagnosis ranged from 1 month to 7 years, with a mean age of 31.2 months. Two patients received haploidentical grafts, and three received geno-identical grafts. Three patients received a protocol based on fludarabine and busulfan; one patient received busulfan, fludarabine, and antithymocyte globulin; and the last patient received fludarabine, thiotepa, and treosulfan. In vivo T depletion was based on post-transplant cyclophosphamide in the two patients receiving haploidentical HSCT. Post-transplant complications included bacterial infections in all patients, viral reactivation (CMV) in two patients, and acute graft-versus-host disease (GVHD) in two patients. Chronic GVHD was observed in one case. Furthermore, two patients developed thrombotic microangiopathy. All patients achieved engraftment with full donor chimerism. Finally, one patient out of five died at the age of 3 years and 5 months from extensive chronic GVHD. Four patients are alive and cured. Conclusion HSCT is a curative treatment in most patients with severe forms of WAS. However, post-transplant complications, including bacterial infections, viral reactivation, and GVHD, remain significant challenges in the management of these patients.