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Gene therapy may cure this rare immune disease

December 6, 2015 By Sam Catherman

Gene therapy may cure this rare immune disease

Researchers may have just found a viable cure for a rare immune disorder that could save countless lives.

Researchers at the National institute of Allergy and Infectious Diseases may have made a serious breakthrough in treating immunodeficiency disorders in young adults. According to a report from Medical Daily, gene therapy may be the solution to a rare disorder called X-linked severe combined immunodeficiency, or sCID-X1 for short.

The disorder is caused by mutations in the IL2RG gene, and disproportionately affects male patients. The disease prevents immune cells from developing to adequately attack infections, which makes people with the disease highly susceptible to pathogens that can lead to serious illnesses. The study’s findings will be presented at the American Society of Hematology’s annual meeting in Orlando by Dr. Suk See De Ravin of the NAID.

The study showed that combining gene therapy with low-dose chemotherapy in five patients suffering from sCID-X1 resulted in a significant improvement in their conditions. The patients, aged 7 to 24, were experiencing worsening immune function even after they received transplants from a qualified donor.

Researchers removed stem cells from the patients’ bone marrow, and then delivered a normalized IL2RG gene to the cells using a lentiviral vector. When the cells were introduced back into the patient following low-dose chemotherapy, they began to produce new blood cells.

Two of the patients in the study that received the treatment showed measurable improvements in their immune systems, and one patient even showed improvements three years following the therapy. The other sadly died of damage related to a pre-existing condition.

The other patients in the study showed modest improvements in their immune function. Despite the small scale of the study, researchers hope that the therapy will prove to be an effective treatment for this rare immune disorder.

A press release from the National Institute of Allergy and Infectious Diseases describing the study can be found here.

 

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