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.
Following 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.