What is omenn syndrome?

omenn syndrome is a genetic disease that results in problems with the immune system, which is part of the body that protects against fabric and organisms that can cause human people's disease. Another name of the syndrome is reticoendolosis with eosinophilia. It is often classified as a subtype of severe combined immunodeficiency (SCID) and is inherited in an autosomal recessive way, which means that both parents must pass the mutated gene in order to affect one of their offspring. Symptoms include skin rash, enlarged lymph nodes and intestinal problems. Treatment of disease often involves transplantation of bone marrow stem cells and immunosuppressive drugs. When the disease was first identified, it was to think that mutations in the recombicated generating genes 1 and 2 (rag-1 and rag-2) were the only causes of the disease. Later research has shown that various mutations in other genes can also cause The syndrome. In order for an individual to have an omenn syndrome, abnormal genes from both parents must inherit.

Mutations causing the omen syndrome cause problems with the production of sufficient white blood cells, including t cells and B cells that play a decisive role in the body defense. In addition, sometimes white blood cells produced Act abnormally and attack elements of human body, including intestinal and skin lining. Patients therefore have problems due to insufficient immune system, which makes them susceptible to various infections, as well as problems as a result of an excessive immune system, as the cells of the body attack their own organs.

OMENT syndrome symptoms usually occur shortly after birth. Many affected individuals experience red scaly skin rash, enlarged lymph nodes and diarrhea. These symptoms are Similar for those who are observed with graft disease against the host, a condition that can be seen in some patients receiving organ transplantation. Patients often also have an enlargedLiver and spleen, which is known as hepatosplenomegaly. Patients are sensitive to a number of bacterial infections and, as a result, often have symptoms, including fever, respiratory problems and skin lesions.

In order to diagnose the oment syndrome, it is important to perform a panel of different laboratory tests, as many different diseases could cause similar symptoms. Patients usually have elevated levels of white blood cells in their blood and, in particular, have a high level called eosinophils. They also have an increased amount of immunoglobulin type E in their blood, a type of protein produced by white blood cells used to combat infections. In some cases, patient genes can be analyzed to check the presence of known mutations that could cause syndrome.

The treatment of OMEN syndrome can be complicated. It is often best left to an expert trained in the treatment of immune disorders. One of the main foundations of treatment is the transplantation of stem cells of bone woodthem, which is a procedure that attempts to replace the part of the body that creates white blood cells. It is often combined with immunosuppressive drugs that can protect the body from attack. Patients are also monitored for infection and have been treated with antibiotics if there are any symptoms.