Adenosine deaminase severe combined immunodeficiency

By Medically reviewed by hellodoktor

msBahasa Malaysia


What is Adenosine deaminase severe combined immunodeficiency?

Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by “opportunistic” organisms that ordinarily do not cause illness in people with a normal immune system.

How common is Adenosine deaminase severe combined immunodeficiency?

Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.


What are the symptoms of Adenosine deaminase severe combined immunodeficiency?

The common symptoms of health condition are:

Affected children also grow much more slowly than healthy children and some have developmental delay.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Adenosine deaminase severe combined immunodeficiency?

The function of the adenosine deaminase enzyme is to eliminate a molecule called deoxyadenosine, which is generated when DNA is broken down. Adenosine deaminase converts deoxyadenosine, which can be toxic to lymphocytes, to another molecule called deoxyinosine that is not harmful.

Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes.

Risk factors

What increases my risk for Adenosine deaminase severe combined immunodeficiency?

This disease runs in the families and hence, children born in families with a medical history of the condition are at risk;

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Adenosine deaminase severe combined immunodeficiency diagnosed?

If your doctor suspects that you experience Adenosine deaminase severe combined immunodeficiency, he/she will perform an exam thoroughly to determine this condition. The diagnosis is based on clinical features, with a concomitant decreased blood adenosine deaminase level supporting the diagnosis. Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; less severe “delayed” onset combined immune deficiency (CID), usually diagnosed between age one and ten years.

Some tests that can help doctor to determine the condition:

  • Blood test
  • X-rays

How is Adenosine deaminase severe combined immunodeficiency treated?

There are three types of therapy are available for the treatment of ADA-SCID:

Bone marrow transplant (BMT)

This type of treatment replaces defective immune cells with healthy immune cells from a donor

Enzyme replacement therapy (ERT)

It replaces the missing ADA enzyme and allows the immune system to function properly

Gene therapy

This experimental therapy that replaces defective genes with genetically modified ones, restoring or increasing levels of ADA.

Due to the rarity of this disorder and the absence of established medical guidelines, the best choice of therapy must be determined on an individual basis. However, most experts agree that a bone marrow transplant is the best option if a matching donor can be found.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Adenosine deaminase severe combined immunodeficiency?

If you have this disease, your children are at higher risk of inheriting the defective gene and having the condition. Genetic counseling can help you and your partner assess your risk of having children with the disease.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.


Review Date: July 31, 2017 | Last Modified: September 13, 2019

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