Omenn Syndrome Research Paper

Omenn syndrome is a genetic disease that affects humans at the earliest stage of life. As an immunodeficiency disorder, it affects the immune system of the human body. The syndrome impairs the function of T cells and causes an absence of B cells. Both of these cells are lymphocytes and a type of leukocyte or white blood cell. In turn, this cause patients to have a hard time fighting off various types of infections that include fungal, viral, and bacterial antigens. Missense mutations in the RAG1 and RAG2 genes cause the disease which leads to decreases in recombinase activity which is what causes the lack of B cells and the dysfunction of T cells. Peeling and inflamed skin is a hallmark of Omenn syndrome and also includes the symptoms of an
Specifically, it is a genetic disease of the immune system and is known as an immunodeficiency disease. The immune system is basically deficient in some way or is missing a key part of it that allows it to function properly. The syndrome affects patients at an early age, sometimes on the very day of their birth even while some experience symptoms after several months. In Omenn syndrome, if left untreated, the disease will eventually cause the death of that patient. Omenn syndrome is a mysterious genetic disease of the immune system characterized by distinctive skin pattern symptoms, debilitating effects on the RAG genes, and an early onset in life. It is a fascinating disease and worth learning more
In fact, studies have shown that 90% of Omenn syndrome cases are caused by hypomorphic mutations that cause a reduced level of expression of the product produced by the RAG1 and RAG2 genes. The mutation of the RAG genes causes there to be problems in the production of V(D)J segments which form large portions of immunoglobulins and receptors found on T cells. This hinders the development of mature B and T cells in a patient. This in turn causes a decrease in lymphocytes around the body, specifically in the thymus and other lymphatic tissues. Often, mutations do not completely affect the production of V(D)J segments and the genes may at least be partially