Adenosine Deaminase 2 Deficiency Overview
Learn About Adenosine Deaminase 2 Deficiency
Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.
ADA2 deficiency is caused by mutations in the ADA2 gene. This gene provides instructions for making an enzyme called adenosine deaminase 2. Studies suggest that this enzyme plays an essential role in the growth and development of certain immune system cells, including macrophages, which are a type of white blood cell that plays a critical role in inflammation. Some macrophages are pro-inflammatory, meaning they promote inflammation, while others are anti-inflammatory, meaning they reduce inflammation.
More than 160 individuals with ADA2 deficiency have been described in the medical literature. However, researchers suspect that many more people may be affected, and ADA2 deficiency may not be a rare disease. They are working to determine whether this condition could underlie other, more common forms of vasculitis and stroke whose causes are currently unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Anmed Health
Vasant Jayasankar is a Thoracic Surgeon and a Vascular Surgeon in Anderson, South Carolina. Dr. Jayasankar and is rated as an Experienced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Aortic Valve Stenosis, Pleurisy, Pleural Effusion, Heart Valve Repair, and Transcatheter Aortic Valve Replacement (TAVR). Dr. Jayasankar is currently accepting new patients.
Anmed Health
Scott Phillips is an Interventional Cardiologist and a Cardiologist in Anderson, South Carolina. Dr. Phillips and is rated as an Experienced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Coronary Heart Disease, Atherosclerosis, Arrhythmias, Angioplasty, and Pacemaker Implantation. Dr. Phillips is currently accepting new patients.
Anmed Health
Jeremy Parker is a Cardiologist in Clemson, South Carolina. Dr. Parker and is rated as an Experienced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Sick Sinus Syndrome, Arrhythmias, Endocarditis, and Angina. Dr. Parker is currently accepting new patients.
Published Date: August 01, 2018
Published By: National Institutes of Health