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adenosine deaminase deficiency

What is Adenosine Deaminase Deficiency?

Adenosine deaminase (ADA) deficiency is a metabolic disease that affects lymphocytes, which are components of, blood that play a significant role in the immune system. ADA is an enzyme produced by the body that breaks down a toxic substance called deoxyadenosine, which results from natural processes in the cells. When there is a deficiency of adenosine deaminase, deoxyadenosine builds up in the body and destroys lymphocytes. As a result, people with ADA can have higher risks for infections.

ADA deficiency is classified into different forms (as described below), because there can be variability in the age of onset and severity of a person’s symptoms.

ADA-Deficient Severe Combined Immunodeficiency Disease (ADA-SCID)

ADA-SCID is the most severe form of this condition and usually appears in the first six months. Infants may fall behind in growth (weight and height) and have a high chance of infection. Lung infections are common at this early age, and these and other infections can cause severe diarrhea, skin inflammation, or other severe symptoms. Some individuals with ADA deficiency have skeletal (abnormal rib shape), liver, and neurological problems (cognition, behavior, and/or deafness).

Delayed/Late-Onset ADA Deficiency

About 15% of people with ADA deficiency first develop symptoms after 6 months of age. Usually symptoms will present within the first few years of life, but a small number of people do not have symptoms until their teens or adulthood. Effects of infections on people with delayed/late-onset ADA deficiency are usually less severe compared to those observed in people with ADA-SCID. They often include ear, nose, and throat infections and the appearance of warts on the hands and feet. Eventually, many people develop chronic breathing problems and anemia.

Partial ADA Deficiency

Partial ADA deficiency does not typically result in symptoms, because the low levels of ADA enzymes that are present in this type function well enough to prevent symptoms. Thus, this form of the condition is generally recognized only by enzyme-based blood tests, though it may be predicted to some extent based on a person’s genetic test results.

How common is Adenosine Deaminase Deficiency?

The worldwide frequency of ADA deficiency in the general population has not been established. Where estimates have been made, the number of people affected with the condition each year ranges from 1 in 450,000 to 1 in 1,500,000, and the number of people affected with the condition each year in the US is approximately 1 in 600,000.

How is Adenosine Deaminase Deficiency treated?

As soon as an ADA deficiency diagnosis known, taking steps to strengthen the immune system is the first goal. Patients receive medicine to prevent a common lung infection (pneumocystis) and intravenous infusion of IgG antibodies to help fight other infections. Long-term treatment is necessary via hematopoietic stem cell transplant (HSCT). If a transplant is not possible or if the risks are too high, a replacement ADA enzyme therapy is possible. This therapy consists of intramuscular injections once or twice a week. Researchers have also been experimenting with gene therapy for many years with some success. However, studies about long-term outcomes are still lacking.

What is the prognosis for a person with Adenosine Deaminase Deficiency?

Without treatment, a child with ADA-SCID can die in the first two years. When treated with a transplant from a matched sibling or family member, up to 90% will survive for at least one year with potentially higher success rates if done within the first few months of life. Some have been found to restore immune systems even 10 years after transplant. The survival rate for transplants from unrelated donors is lower (up to 70%). There appears to be a higher chance of cognitive and behavioral abnormalities, in addition to hearing loss, associated with HSCT. When treated with enzyme replacement therapy, the survival rates are similar to those who received transplants from an unrelated individual, but some have lived 8 to 10 years or more. Gene therapy, though still in the experimental stages, appears to be a promising option.