Adenosine deaminase deficiency is a condition that severely affects the immune system. It’s more commonly known as a cause of severe combined immunodeficiency (SCID).
People who experience SCID because of an ADA deficiency can’t produce a strong immune response against infections. This results in frequent and recurring viral, bacterial, and fungal infections that can be life-threatening.
This article will discuss what you should know about ADA deficiency and ADA-SCID deficiency.
What is an ADA Deficiency?
We’re all born with ADA genes, but the Adenosine deaminase deficiency results from mutations in the ADA gene. It occurs when you inherit an altered gene from your parents in an autosomal recessive way. Consequently, your body doesn’t make enough enzymes to protect you from getting sick.
People with ADA deficiency most commonly develop symptoms before they’re six months old. It’s usually followed by a proper SCID diagnosis. However, some people can also develop symptoms later on in life.
Symptoms of an ADA Deficiency
The earlier symptoms usually occur before the patient is six months old. Those who develop symptoms later experience milder symptoms.
The symptoms include:
- Lung infections
- Ear infections
- Skin infections
- Widespread skin rashes
- Chronic diarrhea
- Trouble gaining weight
- Absent tonsils
- Developmental delay
- Abnormalities in bones
Around 10-15% of patients with ADA deficiency develop symptoms in later childhood and sometimes even adulthood. However, people who experience symptoms later are usually diagnosed with CID (combined immunodeficiency) instead of SCID. These patients are more likely to become malnourished and develop chronic lung damage.
It’s vital that you get a diagnosis and treatment as early as possible to strengthen your immune system.
Many states in the US screen all newborns for ADA-SCID, and it’s essential you get your baby tested even if it’s not required in your state. You can also get checked at any age. The testing includes a simple blood sample to check if the immune system is working at its optimum.
Other treatments include:
- Antiviral, antibiotic, and antifungal medications
- Preventive medicines for pneumonia
- Intravenous (IV) immunoglobulin
- Stem cell transplant
- Enzyme replacement therapy
- Gene therapy
First, your doctor will most likely prescribe an antibiotic, antifungal, or antiviral medication to treat current infections. Children with ADA deficiencies might also have to spend time isolated in a hospital room.
The only known treatment for ADA-SCID is stem cell transplant. The procedure is successful in infants or when a close relative donates some of their stem cells.
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