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 72 free, full-text research articles on human participants. First 3 results:

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
 

Author(s): Maria Pia Cicalese, Francesca Ferrua, Laura Castagnaro, Roberta Pajno, Federica Barzaghi, Stefania Giannelli, Francesca Dionisio, Immacolata Brigida, Marco Bonopane, Miriam Casiraghi, Antonella Tabucchi, Filippo Carlucci, Eyal Grunebaum, Mehdi Adeli, Robbert G Bredius, Jennifer M Puck, Polina Stepensky, Ilhan Tezcan, Katie Rolfe, Erika De Boever, Rickey R Reinhardt, Jonathan Appleby, Fabio Ciceri, Maria Grazia Roncarolo, Alessandro Aiuti

Journal: Blood. 2016 Jul;128(1):45-54.

 

Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease characterized by severe combined immunodeficiency (SCID). The treatment of choice for ADA-deficient SCID (ADA-SCID) is hematopoietic stem cell transplant from an HLA-matched sibling donor, ...

Last Updated: 8 Jul 2016

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Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.
 

Author(s): Sira Nanthapisal, Claire Murphy, Ebun Omoyinmi, Ying Hong, Ariane Standing, Stefan Berg, Maria Ekelund, Stephen Jolles, Lorraine Harper, Taryn Youngstein, Kimberly Gilmour, Nigel J Klein, Despina Eleftheriou, Paul A Brogan

Journal: Arthritis Rheumatol. 2016 Sep;68(9):2314-22.

 

To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency.

Last Updated: 25 Aug 2016

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Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.
 

Author(s): Hirsh D Komarow, Robert Sokolic, Michael S Hershfield, Donald B Kohn, Michael Young, Dean D Metcalfe, Fabio Candotti

Journal:

 

Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary dysfunction likely attributable to ...

Last Updated: 19 Dec 2015

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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 2 free, full-text review articles on human participants. First 3 results:

New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency.
 

Author(s): Michael S Hershfield

Journal: Eur. J. Immunol.. 2005 Jan;35(1):25-30.

 

There is growing interest in manipulating adenosine (Ado) signal transduction to control inflammation and autoimmunity. This concept probably originated with the discovery of severe combined immunodeficiency disease (SCID) in infants with inherited deficiency of adenosine deaminase ...

Last Updated: 3 Jan 2005

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Adenosine deaminase deficiency and severe combined immunodeficiency disease.
 

Author(s): M B Van der Weyden, W N Kelley

Journal: Life Sci.. 1977 May;20(10):1645-50.

 

Last Updated: 25 Aug 1977

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency Due to ADA Deficiency

 

Last Updated: 4 Jan 2017

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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 May 2017

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Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs)
 

Status: Not yet recruiting

Condition Summary: Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency

 

Last Updated: 20 Sep 2017

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