Adenosine Deaminase Deficiency

Common Name(s)

Adenosine Deaminase Deficiency, Severe combined immunodeficiency due to ADA deficiency

Adenosine deaminase deficiency (ADA) is an inherited condition that affects the immune system and typically leads to severe combined immunodeficiency (SCID). People with SCID have a reduced or absent immune response which leaves them vulnerable to frequent bacterial, viral, and fungal infections. Most people affected by ADA develop symptoms of the condition before 6 months of age. However, approximately 10-15% of affected people have a "delayed" onset of symptoms; diagnosis of these cases, which are often less severe, typically takes place later in childhood (often between age 1 and 10) or even into adulthood. Signs and symptoms of ADA include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth and/or developmental delay. ADA is caused by changes (mutations) in the ADA gene and is inherited in an autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adenosine Deaminase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adenosine Deaminase Deficiency" returned 68 free, full-text research articles on human participants. First 3 results:

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
 

Author(s): Lien Van Eyck, Michael S Hershfield, Diana Pombal, Susan J Kelly, Nancy J Ganson, Leen Moens, Glynis Frans, Heidi Schaballie, Gert De Hertogh, James Dooley, Xavier Bossuyt, Carine Wouters, Adrian Liston, Isabelle Meyts

Journal: J. Allergy Clin. Immunol.. 2015 Jan;135(1):283-7.e5.

 

Last Updated: 8 Jan 2015

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Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency.
 

Author(s): Denise A Carbonaro, Lin Zhang, Xiangyang Jin, Claudia Montiel-Equihua, Sabine Geiger, Marlene Carmo, Aaron Cooper, Lynette Fairbanks, Michael L Kaufman, Neil J Sebire, Roger P Hollis, Michael P Blundell, Shantha Senadheera, Pei-Yu Fu, Arineh Sahaghian, Rebecca Y Chan, Xiaoyan Wang, Kenneth Cornetta, Adrian J Thrasher, Donald B Kohn, H Bobby Gaspar

Journal: Mol. Ther.. 2014 Mar;22(3):607-22.

 

Gene transfer into autologous hematopoietic stem cells by γ-retroviral vectors (gRV) is an effective treatment for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). However, current gRV have significant potential for insertional mutagenesis as reported ...

Last Updated: 3 Mar 2014

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Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency.
 

Author(s): Madhusoothanan B Perumal, Stjepana Kovac, Alexander Shah, Nicholas Wood, Henry Houlden, Sofia Eriksson, Matthew Walker

Journal: J Sleep Res. 2014 Feb;23(1):118-20.

 

Last Updated: 15 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adenosine Deaminase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy ADA Deficiency
 

Status: Recruiting

Condition Summary: Adenosine Deaminase Deficiency

 

Last Updated: 1 Mar 2012

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EZN-2279 in Patients With ADA-SCID
 

Status: Recruiting

Condition Summary: ADA-SCID; Adenosine Deaminase Deficiency; Severe Combined Immunodeficiency

 

Last Updated: 9 Feb 2015

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Participation in a Research Registry for Immune Disorders
 

Status: Recruiting

Condition Summary: ADA-SCID; Adenosine Deaminase Deficiency; Wiskott- Aldrich Syndrome; Primary Immunodeficiencies; Severe Combined Immune Deficiency

 

Last Updated: 14 May 2015

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