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Under normal circumstances, ourimmunesystem protects the body from external viruses, bacteria, etcWhen theimmunesystem "messed up" to attack their normal tissue, there is an autoimmune disease, autoimmune disease sontic tissue damage and corresponding dysfunctionpicture source: DrOfir Shein-Lumbrosopathogenic autoantibodies can occur in many autoimmune diseases, but it is not yet known how they evade the cells of immunodeficiency pointsRecently, a team led by the Garvan Institute of Medicine in Sydney, Australia, found for the first time individual cells that cause autoimmune diseases in patient samples using a single-cell multi-group analysisThe findings were published February 14 in the journal CellDOI: https://doi.org/10.1016/j.cell.2020.01.029Trace Origins
Said Chris Goodnow, executive director of the Garvan Institute and director of the Sydney Institute of Cell Genomics Futures, said, "Current treatment for autoimmune diseases is only for symptoms." In order to treat diseases more specifically, we first need to understand the causebecause "rogue" immune cells are so rare in blood samples, less than one in 400 cells, it's challenging to study themMandeep Singh, the paper's lead author, said the analysis so far has only revealed the "average" value of a large number of cell combinations in patient samplesUsing cytogenomics, we developed a way to 'amplify' the disease-causing immune cells in theof bloodsamples of four patients with cold globumicrovasitis with coldglobumicrovasitisspecifically, the researchers obtained immune cells that produce "rheumatoid factors" by first separating individual cells and then separating their genetic materialThe protein targets healthy tissue and is associated with the most common autoimmune diseases, including rheumatoid arthritisNext, the researchers analyzed the DNA and messenger RNA of each "rogue" cell and scanned more than a million genomic sites in the genome to identify DNA variants that may be the root cause of the diseasethe evolution of the disease
researchers found that the disease-causing immune cells in patients withvasculardisease had accumulated a large number of mutations before they produced rheumatism factorsMoreover, some of the initial genetic mutations that occur in these rogue cells causelymphoma(immune cell carcinoma)ProfessorGoodnow explained: "We found '
lymphoma drive mutations', including a variant of the CARD11 gene This mutation allows rogue immune cells to bypass immune tolerance checkpoints and reproduce uninhibited in addition, the researchers found that cells that drive genetic mutations from lymphoma accumulate more mutations that cause them to produce rheumatism factors that come together at lower temperatures This explains why patients develop cold globulinemia vasculitis In these patients, rheumatism factors in the blood accumulate at lower temperatures, closer to the skin, and in the kidneys, nerves and other organs, which damage blood vessels and are often difficult to treat New Hope the results of this study not only reveal the root causes of autoimmune diseases, but also the ability to identify and study specific immune cells at this resolution, and have great potential for future diagnosis and treatment of all autoimmune disease etiology and treatment if patients can be diagnosed in the early stages of autoimmune diseases , it is possible to combine the understanding of these mutations with new targeted treatments for lymphoma, to intervene in the progression of the disease or to track the patient's response to treatment Researchers are currently planning follow-up studies to study mutations in autoimmune cells in a range of other diseases, including lupus, celiac disease and type 1 diabetes