2024-07-16 17:46:00
A medical mystery served as the starting point for a study that has promising implications for the treatment of many autoimmune diseases.
The Immunobiology Project at Yale School of Medicine works with children living with rare immune disorders resulting from a genetic mutation with the goal of better understanding the complex circuits of the human immune system.
Through genetics they discovered mutations that create a deficiency in phosphatidylinositol 3-kinase-gamma (PI3Kγ), a signaling molecule found in immune cells. The research team showed that the immune defects caused by this mutation caused mediated damage to the intestines and lungs, and they also reduced their antibody levels.
The discovery encouraged the team to further investigate the biological link between PI3Kγ and the antibody response. Now, scientists have discovered that PI3Kγ plays an important role in allowing activated B cells, a type of immune cell, to differentiate into secretory cells. In addition to helping understand the disease from rare cases of human PI3Kγ deficiency, the researchers hope that other patients may also benefit from this new knowledge.
These findings, which begin with patient discovery and its relevance to human health, identify not only an important factor in how B cells decide to differentiate, but also a potential target for the treatment of autoimmune diseases. . Current treatments for autoimmune diseases often involve complete elimination of B cells.
PI3K inhibitors are already used to treat certain types of cancer and rare diseases, and after treating the models with a drug that targets PI3Kγ, the researchers found that it successfully blocked the ability of B cells to differentiate into hematopoietic cells. . In future studies, the team plans to test PI3K inhibitors in mouse models of pre-existing immune conditions to further evaluate them as potential treatment options. The work emphasizes how the study of rare genetic diseases can also provide broader knowledge that is meaningful to a larger portion of the population.
By inhibiting PI3Kγ therapy, doctors will be able to treat the overproduction of proteins that cause the symptoms of many autoimmune diseases.
The team first published their findings in September 2019 in the journal Nature communications and these new discoveries in the magazine Immunization of nature in July 2024.
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