Severe Combined Immunodeficiency Syndrome caused by Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Syndrome (SCID) is a rare disorder caused by a genetic deficiency in the body’s immune system. It is also known as the “bubble boy” syndrome, due to the need to keep the affected persons in a sterile environment.

SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA). The ADA enzyme helps cells in the body use genetic material to create important proteins that help the body’s cells stay healthy. When ADA is deficient, the body’s immune system does not function properly, and it fails to make enough white blood cells, which are critical to a healthy immune system.

Patients with SCID due to ADA deficiency can have medical complications such as:

Infections: with bacteria, viruses, fungi, opportunistic organisms
Autoimmune disorders
Cancer of the blood (leukemia or lymphoma)
Gastrointestinal problems

The most common treatment for ADA deficiency is the technique called Gene Therapy. Here, healthy ADA genes are modified to create cells with the ability to produce ADA, which is then injected into the patient. Over time, these modified cells can replace the patient’s defective ADA-producing cells.

Regular follow-up care is critical for any patient with ADA deficiency, and may include:

Regular check-ups to monitor the effectiveness of the gene therapy treatment; blood tests to check for infections
Continued assessment of any signs or symptoms of immunodeficiency
Nutritional guidance and advice regarding the immunosuppressant medications
Vaccinations, when appropriate for the patient

With proper management and monitoring, patients with ADA deficiency can live healthy and productive lives.