Two patients with Wiskott-Aldrich syndrome have been successfully treated with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). The patients' clinical condition markedly improved after the treatment.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder. It is associated with thrombocytopenia, eczema and autoimmunity.
AdvertisementFollowing the gene therapy a sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells and platelets was found. With resolution of hemorrhagic diathesis, eczema, autoimmunity and predisposition to severe infection certain functional corrections had to be made in the T and B cells, natural killer (NK) cells and monocytes . Vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis was showed by comprehensive insertion-site analysis.