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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?
Tulika Jain
Distinguished in Adenosine Deaminase 2 Deficiency
Cardiology | Internal Medicine
Distinguished in Adenosine Deaminase 2 Deficiency
Cardiology | Internal Medicine

Texas Health Heart And Vascular Specialists

3144 Horizon Rd, Ste 220, 
Rockwall, TX 
Languages Spoken:
English, Hindi
Offers Telehealth

Tulika Jain is a Cardiologist and an Internal Medicine provider in Rockwall, Texas. Dr. Jain is rated as a Distinguished provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. Her top areas of expertise are Aortic Regurgitation, Atrial Fibrillation, Glucocorticoid-Remediable Aldosteronism, and Hypertension.

Jorge Cheirif
Advanced in Adenosine Deaminase 2 Deficiency
Advanced in Adenosine Deaminase 2 Deficiency

Texas Health Heart And Vascular Specialists

8440 Walnut Hill Ln, Ste 610 Bldg 4, 
Dallas, TX 
Languages Spoken:
English, Spanish
Offers Telehealth

Jorge Cheirif, M.D., was born and raised in Mexico City. He obtained his medical degree from the National University of Mexico and completed his internship and residency in internal medicine at Baylor College of Medicine in Houston.Cheirif is the director of the non-invasive cardiology lab, medical director of the Hispanic Initiative, and immediate past president and director of the Behavioral Event Review Committee (BERC) at Texas Health Dallas. He also serves as chair of the Heart & Vascular Accreditation Case Manager (HV-ACM) strategy committee. He is board-certified in cardiovascular diseases and internal medicine, focusing on consultative cardiology, echocardiography, CT angiography and cardiac catheterization.Cheirif was on the American Heart Association local affiliate board of directors for two years; has received the Clinician Scientist Award from the American Heart Association; and was named Teacher of the Year by Ochsner Clinic, Texas Health Dallas, and Baylor College of Medicine. In addition, he has been named to Best Doctors in Dallas and Texas Super Doctors for 10 years. Cheirif speaks Spanish, Yiddish and Hebrew, and lives in Dallas with his wife, Heidy. Dr. Cheirif is rated as an Advanced provider by MediFind in the treatment of Adenosine Deaminase 2 Deficiency. His top areas of expertise are Pediatric Myocarditis, Necrosis, Aortic Regurgitation, and Mitral Valve Regurgitation.

 
 
 
 
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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).

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