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.

Save information for later
Sign Up
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?
Elite
Highly rated in
16
conditions

Fondazione IRCCS Istituto Neurologico Carlo Besta

Neurology Ix Unit 
Milan, IT 20133

Anna Bersano is in Milan, Italy. Bersano is rated as an Elite expert by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Adenosine Deaminase 2 Deficiency, Vertebral Artery Dissection, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, and Hereditary Cerebral Amyloid Angiopathy.

Distinguished
Highly rated in
16
conditions
Thoracic Surgery
General Surgery

Northwell Health

North Shore Lij - Medical PC

130 E 77th St 
New York, NY 10075

Derek Brinster is a Thoracic Surgeon and a General Surgeon in New York, New York. Dr. Brinster has been practicing medicine for over 26 years and is rated as a Distinguished doctor by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Aortic Dissection, Thoracic Aortic Aneurysm, Cystic Medial Necrosis of Aorta, and Adenosine Deaminase 2 Deficiency. He is licensed to treat patients in New York and Virginia.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
8
conditions
Thoracic Surgery

ProMedica Health System

Cardiothoracic Surgeons For Northwest Ohio

2109 Hughes Dr 
Toledo, OH 43606

Michael Moront is a Thoracic Surgeon in Toledo, Ohio. Dr. Moront has been practicing medicine for over 38 years and is rated as a Distinguished doctor by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Aortic Valve Stenosis, Aortic Regurgitation, Mitral Valve Regurgitation, and Adenosine Deaminase 2 Deficiency. He is licensed to treat patients in Ohio. Dr. Moront 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:updated Last, August

Published By: National Institutes of Health

What are the Latest Advances for Adenosine Deaminase 2 Deficiency?
The diagnostic value of skin biopsies in Sneddon syndrome.
Tired of the same old research?
Check Latest Advances