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.
Texas Health Heart And Vascular Specialists
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.
Texas Health Heart And Vascular Specialists
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.
Aurora Cardiovascular Services
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).
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...
Published Date: August 01, 2018
Published By: National Institutes of Health