MONDAY, SEPTEMBER 26, 2016

NIAID discovers new disease and finds rapamycin a potential treatment

A recent study, published in Monday's online issue of Nature Immunology, discovered a new Primary Immune Deficiency Disease called PASLI disease and a potential treatment for the new disease.

Scientists from the National Institute of Allergy and Infectious Diseases and the National Human Genome Research Institute of the National Institutes of Health conducted the study and found the new PIDD, a rare genetic condition which adversely affects the function of the immune system. The disease, called PASLI disease, was found to be caused by an overactive PI3K-p110 delta gene.

PASLI disease, named after the mutated gene that results in the disease, was found while conducting diagnostics on 14 patients who came to the NIAID Primary Immune Deficiency clinic with symptoms of a potential PIDD. The 14 patients were from seven unrelated families and of various ethnic backgrounds. Each patient experienced recurring infections of the respiratory system since childhood and had developed EBV-associated lymphoma.

After observing the patients and the apparent cause of disease, researchers hypothesized that using a drug to block the signal that causes the p110 delta gene to become overactive would stop the problems the gene caused. The FDA-approved drug already available on the market, rapamycin, was used by one patient daily to test this hypothesis. The drug restored the patient's T cells to normal levels within four months.

The researchers have plans for future studies to determine if rapamycin can be used as an effective treatment for PASLI disease.

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