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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?
Louie Kostopoulos
Advanced in Adenosine Deaminase 2 Deficiency
Interventional Cardiology
Advanced in Adenosine Deaminase 2 Deficiency
Interventional Cardiology

Aurora Cardiovascular Services

2801 W Kinnickinnic River Pkwy, Ste 880, 
Milwaukee, WI 
Languages Spoken:
English

Louie Kostopoulos is an Interventional Cardiologist in Milwaukee, Wisconsin. Dr. Kostopoulos is rated as an Advanced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Endocarditis, Adenosine Deaminase 2 Deficiency, Atherosclerosis, Angioplasty, and Pacemaker Implantation.

Stephen J. Welka
Advanced in Adenosine Deaminase 2 Deficiency
Advanced in Adenosine Deaminase 2 Deficiency

Aurora Cardiovascular Services

248 McHenry St 3rd Fl, 
Burlington, WI 
Languages Spoken:
English

Stephen Welka is a Cardiologist in Burlington, Wisconsin. Dr. Welka is rated as an Advanced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Arterial Insufficiency, Cardiomyopathy, Atrial Fibrillation, and Transient Ischemic Attack (TIA).

 
 
 
 
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Robert Panther
Advanced in Adenosine Deaminase 2 Deficiency
Advanced in Adenosine Deaminase 2 Deficiency

Aurora Cardiovascular & Thoracic Services

36500 Aurora Dr, 
Summit, WI 
Languages Spoken:
English
Offers Telehealth

Robert Panther is a Cardiologist in Summit, Wisconsin. Dr. Panther is rated as an Advanced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Coronary Heart Disease, Cardiomyopathy, Heart Failure with Preserved Ejection Fraction (HFpEF), Arrhythmogenic Right Ventricular Cardiomyopathy, and Pacemaker Implantation.

What are the latest Adenosine Deaminase 2 Deficiency Clinical Trials?
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)

Summary: Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strok...

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