Save information for later
Sign Up

Learn About Adenosine Deaminase 2 Deficiency

What is the definition of 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.

What are the causes of Adenosine Deaminase 2 Deficiency?

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.

How prevalent is Adenosine Deaminase 2 Deficiency?

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.

Is Adenosine Deaminase 2 Deficiency an inherited disorder?

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.

Who are the top Adenosine Deaminase 2 Deficiency Local Doctors?
Thoracic Surgery | Vascular Surgery
Thoracic Surgery | Vascular Surgery

Anmed Health

803 N Fant St, Suite 3a, 
Anderson, SC 
 0.6 mi
Accepting New Patients
Offers Telehealth

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.

Interventional Cardiology | Cardiology | Hospital Medicine
Interventional Cardiology | Cardiology | Hospital Medicine

Anmed Health

100 Healthy Way, Suite 1250, 
Anderson, SC 
 2.9 mi
Accepting New Patients

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.

 
 
 
 
Learn about our expert tiers
Learn More

Anmed Health

895 Tiger Blvd, 
Clemson, SC 
 17.2 mi
Accepting New Patients

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.

What are the latest Adenosine Deaminase 2 Deficiency Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: August 01, 2018
Published By: National Institutes of Health