Learn About Adenosine Deaminase Deficiency

What is the definition of Adenosine Deaminase Deficiency?

Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

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What are the causes of Adenosine Deaminase Deficiency?

Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders, such as bacteria and viruses, by making immune proteins called antibodies or by directly attacking infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system.

How prevalent is Adenosine Deaminase Deficiency?

Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases.

Is Adenosine Deaminase 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 Deficiency Local Doctors?
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Highly rated in
13
conditions

University Of Lausanne

Lausanne, VD, CH 1011

Fabio Candotti is in Lausanne, Switzerland. Candotti is rated as an Elite expert by MediFind in the treatment of Adenosine Deaminase Deficiency. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency, Wiskott-Aldrich Syndrome, and Omenn Syndrome.

Elite
Highly rated in
12
conditions

The Hospital For Sick Children

Department Of Pediatrics 
Toronto, ON, CA 

Eyal Grunebaum is in Toronto, Canada. Grunebaum is rated as an Elite expert by MediFind in the treatment of Adenosine Deaminase Deficiency. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Adenosine Deaminase Deficiency, Omenn Syndrome, Bare Lymphocyte Syndrome, and Reticuloendotheliosis.

 
 
 
 
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Elite
Highly rated in
15
conditions

University College London

London, ENG, GB 

Hubert Gaspar is in London, United Kingdom. Gaspar is rated as an Elite expert by MediFind in the treatment of Adenosine Deaminase Deficiency. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Severe Combined Immunodeficiency, Bare Lymphocyte Syndrome, Adenosine Deaminase Deficiency, and Omenn Syndrome.

What are the latest Adenosine Deaminase Deficiency Clinical Trials?
Prospective Observational Study Evaluating the Prevalence of Adenosine Deaminase (ADA) Enzyme Deficiency Disease in Lymphopenic Patients in Immunology Clinics
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Prospective Observational Study Evaluating the Prevalence of Adenosine Deaminase (ADA) Enzyme Deficiency Disease in Patients With Lymphopenia and/or Immunoglobulin E Elevation in Adult Immunology and Hematology Clinics
Who are the sources who wrote this article ?

Published Date:updated Last, July

Published By: National Institutes of Health

What are the Latest Advances for Adenosine Deaminase Deficiency?
The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.
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Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.