Yale Scientists Identify Rare Inherited Immune Disease
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Rare Immune Disease Identified By Yale Researchers

When a nine-year-old girl with anemia, breathing problems, and recurrent infections sought help for her mysterious ailments, Yale scientists and their collaborators at the NIH sequenced her genes to pinpoint a cause. What researchers discovered was not only a new disease but also an unexpected new role for a gene that can affect the immune system.

The nine-year-old patient had signs of both a weak & deficient immune system as well as autoimmunity where the immune cells mistake healthy tissues and organs as threats and attack them. By assessing her genes, the Yale research team discovered she was lacking a protein called PI3Ky. This protein and the gene that encodes this protein had been studied in mice, but researchers had never seen a human with this mutation.

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In order to determine its role in her illness, the Yale team studied her blood cells and examined that particular protein’s role in mice. Researchers put mice that had been genetically modified to lack this gene in cages with healthy mice purchased from a pet store. Unlike the lab mice, the store-bought healthy mice had been exposed to germs that interacted with their immune systems. And over time, the PI3Ky- protein-deficient mice developed many of the same immune problems as like the human patient.

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According to the scientists, the research study of this inherited immune disease provided fresh insight into the biology of the immune response. The scientists described specific roles for the mutated gene in immune dysfunction. Researchers also showed how working with “dirty” mice those exposed to germs in their environment, could help them mimic human disease in the laboratory.

By pinpointing the underlying genetic causes of the nine-year-old patient’s illness, the scientists also opened a new avenue of treatments with medication. In addition to this, the discovery offers key information about PI3Ky protein, which is a target of cancer immune therapies. Blocking this protein in cancer patients could help in the fight against tumors, said the scientists and this nine-year-old patient’s case helps doctors know what to monitor as potential side effects in cancer patients receiving PI3Ky protein inhibitors.

The research paper in which rare inherited immune disease identified, led by assistant professor of immunobiology Carrie Lucas, is published in Journal Nature Communications.


Ria Roy completed her Post Grad degree at the Visvesvaraya Technological University. She has a great grounding in the skills, including technical, analytical and research skills. She is a motivated life science professional with experience of working in famous research institutes