This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Adenosine Deaminase 2 deficiency (ADA2 deficiency) causes swelling of the blood vessels (vasculitis), leading to decreased blood flow affecting the organs and skin. Though the severity and age of onset can vary, most people with ADA2 deficiency begin having symptoms in childhood. Symptoms may include the following: recurrent strokes at an early age, fevers, pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include arthritis, immune system abnormalities, anemia, and damage to the nervous system. ADA2 deficiency is thought to be caused by genetic changes in the CECR1 gene and inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, blood tests and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. Stem cell transplantation is an option for those who don’t respond to medication, and is considered a cure.
For more information, visit GARD.