Adenosine Deaminase Deficiency (Ada Deficiency)

Adenosine deaminase deficiency **(ADA)** is a severe hereditary disease that occurs in one in twenty-five thousand children. This is a deficiency of a special enzyme called adenosine deaminase.

**ADA** plays a key role in regulating immunity. It is responsible for breaking down harmful proteins in the lymphatic system and thereby helping the body fight infections. However, in people with insufficient levels of **ADA**, this enzyme cannot perform its functions as efficiently as possible, leading to serious health problems.

One manifestation of ADA deficiency is severe combined immune deficiency** (SCID**), which has symptoms similar to AIDS. Patients with this disease become susceptible to a wide range of infections, including viruses, bacteria, fungi and parasites. They often suffer severe complications and may die at an early age if they do not receive proper treatment.

Children with **ADA deficiency,** who are born without this enzyme metabolism, can be cured through genetic engineering. The technology is called **"expressive adrenoline**", which is aimed at

Adenosine deaminase deficiency and its consequences

Why is it important

Adenosine deaminase deficiency is a hereditary disease that affects one in every 25 thousand infants. Cases of the disease also occur in adults, although they are extremely rare. Such conditions are often called purine-type congenital immunodeficiency, since the main defect is a reduced level of ADA (adenosine deaminins). In the process of nucleotide synthesis, ADA is responsible for the deamination of adenine and deoxyadenine (http://www.invitro.ru/analizes/for_doctors/labfind/340/) An insufficient amount of ADA in the first place **can lead** to **a decrease in the body's resistance to microorganisms**, which means the body will be susceptible to more diseases. The reason for this is the selective destruction of lymphocytes that produce specific antibodies. And as a result, the child with a 100% chance is affected by infections and is weakened against the development of his own antibodies. Chronic systemic diseases To a greater extent, this syndrome is associated with a high risk of developing other immunodeficiency conditions and systemic autoimmune pathology, which often leads to the development of severe chronic systemic diseases such as bacterial infections of the skin and soft tissues, Chronic hepatitis, Diffuse helminthic infestations, Chlamydial infection and others .

With an insufficient amount of ADA, the production of interferons decreases, and with the development of viral infections, the body loses its resistance quite significantly, which leads to severe forms of infectious lesions. Rarely, but still there are cases of abnormal hemolysis. Patients usually die from complications of an infectious nature at the age of 3-5 years. This is due to inadequate restoration of the immune system. Even if a person lives to adulthood, this becomes the cause of frequent and serious illnesses as a result of the gradual depletion of immune reserves.

Tuberculosis, Aspergillosis or blastomycosis, as a rule, are not themselves the main cause of death in patients, but they become the main infectious complications of severe aplasia

Title: Adenosine deaminase deficiency: a genetic disease requiring urgent use of gene therapy

**Introduction**

ADA deficiency is an inherited disease characterized by the absence of the enzyme adenosine deaminase in the blood. This disease occurs due to a change in the ADA2 gene on chromosome 6, which results in the body's inability to create and maintain special antibody-producing lymphocytes. This can lead to the development of SKIN syndrome (severe combined immunodeficiency), which is very similar to the course of AIDS, since the patient’s body does not fight infections. Children with ADA deficiency must be closely monitored by doctors and act within the framework of a special protective system throughout their lives. Currently, clinical studies are underway and there is an opportunity to study and develop gene therapy methods.

**Description of the disease** Genetic defects leading to ADH deficiency can have several different causes. The most common type of disorder occurs due to the absence of a fragment in the coding strand of DNA, called DEF1 (from the English "Deficient ADA"). Typically, this occurs accidentally during embryonic development, causing some red blood cells in the blood cells to