In a novel approach that works around the gene defect in Wiskott-Aldrich syndrome, an inherited immune deficiency disorder, researchers used an alternative cell signaling pathway to significantly improve immune function in a 13-year-old boy with the disease. The study, at The Children's Hospital of Philadelphia, provides a proof-of-principle that immunotherapy, which harnesses elements of the body's immune system, may be used to treat this rare but often deadly disorder. "If this encouraging initial result holds up in further clinical studies, we may have a new treatment option for patients with Wiskott-Aldrich syndrome," said pediatric immunologist Dr. Jordan S. Orange, who holds the newly established Jeffrey Modell Endowed Chair in Pediatric Immunology Research at Children's Hospital. The immunotherapy study appears in the April 2011 issue of The Journal of Clinical Investigation. Wiskott-Aldrich syndrome (WAS) is a complex immunodeficiency disorder characterized by recurrent infections, eczema and thrombocytopenia (a low platelet count). Mutations in the WAS gene disable its ability to produce WAS protein (WASp), which crucially affects immune cells—particularly natural killer (NK) cells, a major component of the innate immune system. Without WASp, immune defenses are compromised, leaving WAS patients at risk for premature death from infection and cancers. This risk exists even for patients mildly affected by WAS. The only current cure for WAS is stem cell transplantation, a potentially risky procedure presently justified in severe cases. In addition, Dr. Orange recently contributed to a small experimental study of gene therapy for WAS led by European researchers, which achieved clinical benefits in two severely affected young boys.
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