Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 363, Issue 20, Pages 1918-1927Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1003548
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Funding
- Deutsche Forschungsgemeinschaft (DFG) [KliFo 110-2, SPP1230]
- Bundesministerium fur Bildung und Forschung (BMBF)
- CONSERT
- PERSIST
- CLINIGENE
- National Institutes of Health [AI-067946]
- Else Kroner-Fresenius Stiftung
- Care-for-Rare Foundation
- TAMOP [4.2.2-08/1-2008-0015]
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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.
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