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N Engl J Med. 2010 Nov 11;363(20):1918-27. doi: 10.1056/NEJMoa1003548.

Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

Author information

1
Department of Pediatric Hematology-Oncology , Hannover Medical School, Hannover, Germany.

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, eczema, and autoimmunity. We treated two patients who had this disorder with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). We found sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer (NK) cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis. (Funded by Deutsche Forschungsgemeinschaft and others; German Clinical Trials Register number, DRKS00000330.).

PMID:
21067383
PMCID:
PMC3064520
DOI:
10.1056/NEJMoa1003548
[Indexed for MEDLINE]
Free PMC Article

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