Adenosine Deaminase Deficiency Several combined immunodeficiency (ADA-SCID) is a rare genetic disease.
ADA-SCID is a primary immunodeficiency, it is an immune system disorder caused by a lack of the enzyme adenosine deaminase.(ADA).The deficiency of this enzyme leads to the underdevelopment and dysfunction of the immune system, as well as organ and tissue damage. It is a rare disorder, it's symptoms essentially include increased predisposition to infections, especially those affecting the respiratory system.
ADA-SAID patient is susceptible which can lead to death within the 1st few years of life. The disease transmitted is an autosomal recessive manner, this means that if both parent are unaffected carriers, there is a 25% chance of their child inheriting both abnormal genes regardless of the child's gender. Diagnosis is made based on clinical criteria and laboratory tests, Which demonstrate immune system deficiency.
In the past, the only treatment available for ADA-SCID patients was a bone marrow transplant. Now the experimental gene therapy conducted at the Sun Raffaele Institute, 14 children have been cured since 2002. Gene therapy is the only lifeline for children who do not have a compatible bone marrow donor, which is most often the case. The Sun Raffaele Telethon Institute for gene therapy has been committed to studying the cause ADA-SCID and more importantly, possible treatments for this disorder.
Medical research founded by telethon has made it possible to develop a gene therapy treatment for children affected by this very serious disorder. This therapy corrects the defect directly in the hematopoietic stem cells of
ADA-SCID patients who, after receiving their treatment are able to live a normal life with a fully functioning immune system. The correct gene is inserted into the cells being treated through this gene therapy.
In the case of primary immunodeficiency, this treatment is only applied to blood cells because the correction is made on the hematopoietic stem cell. A viral vector, to transport genetic material is used to insert the ''Healthy" gene into the defective cell. After being introduced into the cell, the vector release the gene which settles into the target cell and is then transduced to all daughter cells.