Deficiency of Adenosine Deaminase 2 (DADA2)
Overview
Deficiency of Adenosine Deaminase 2 (DADA2) is a rare genetic disorder that involves inflammation of the body's tissues, especially the tissues that make up the blood vessels. Inflammation is the body's natural response to injury or infection, but continuous inflammation, such as that caused by DADA2, can damage vital organs and systems. Damage to these areas can result in disability or even death.
DADA2 is caused by a change in the CECR1 gene, which helps create a protein called adenosine deaminase 2. This protein supports the lining of blood vessel walls. The continuous inflammation caused by deficiency in this protein can affect the blood vessels of the brain and cause stroke-like episodes.
Symptoms
Symptoms of DADA2 vary depending on how bad the inflammation is and where it is located. Symptoms may include:
- Repeated fevers on and off
- Tendril-like skin discolorations
- Enlarged liver and spleen
- Recurrent stroke-like episodes
- Immune system abnormalities
Inflammation of the blood vessels (vasculitis) also may cause:
- Headache
- Fatigue
- General aches and pains
- Night sweats
- Numbness
- Weight loss
Causes and Risk Factors
DADA2 is caused by a change in the CECR1 gene, which helps create the protein adenosine deaminase 2. This protein helps support the lining of blood vessel walls.
DADA2 may be diagnosed any time in early childhood or adulthood. For some patients, stroke episodes begin early in childhood and may affect areas deep in the brain.
DADA2 is inherited through a recessive gene, which means both parents of the patient must carry the changed CECR1 gene in order for the patient to have the condition.
Diagnosis
Diagnosis of DADA2 usually begins with a physical exam and a review of the patient's medical history and symptoms. The only way to positively diagnose DADA2 is through genetic testing.
Imaging tests may also be used to help diagnose the condition and better understand the patient's symptoms. These tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, can help the medical team see areas of the brain where damage has occurred.
Treatment
There is no cure for DADA2. Treatment for the condition focuses on managing the symptoms, and varies from one patient to the next.
Physical and occupational therapy, as well as medications, may be included in the treatment plan.
If the patient has other stroke risk factors such as smoking, high blood pressure, or uncontrolled diabetes, these conditions will be managed to limit the risk of stroke.
For patients with a hereditary condition, genetic counseling, available through the Cedars-Sinai Medical Genetics Institute, can help identify families at risk and provide referrals to specialized health care providers.
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