NIH Team Identifies New Genetic Syndrome

NIH researchers have identified a new genetic syndrome characterized by severe allergy, immune deficiency, autoimmunity, and motor and neurocognitive impairment. The research team, led by NIAID scientists, found that these diverse symptoms are the result of mutations in a single gene associated with sugar metabolism. Their results appeared online in the Journal of Allergy and Clinical Immunology on March 3.

The scientists plan to evaluate certain types of sugars as a potential treatment for people with this rare genetic condition. In addition, their findings have implications for development of new treatments for more common allergic and immunologic diseases.

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