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

Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.
 

Author(s): Peter Lamprecht, Jens Y Humrich, Isabel Diebold, Gabriela Riemekasten

Journal: Clin. Exp. Rheumatol.. ;36 Suppl 111(2):177.

 

Last Updated: 31 Dec 1969

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Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
 

Author(s): Johanna Schepp, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, Klaus Warnatz, Jana Pachlopnik Schmid, Andrea Duppenthaler, Vassilios Lougaris, Ignacio Uriarte, Susan Kelly, Michael Hershfield, Bodo Grimbacher

Journal: Arthritis Rheumatol. 2017 08;69(8):1689-1700.

 

We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood.

Last Updated: 31 Dec 1969

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Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.
 

Author(s): Amy P Hsu, Robert R West, Katherine R Calvo, Jennifer Cuellar-Rodriguez, Mark Parta, Susan J Kelly, Nancy J Ganson, Michael S Hershfield, Steven M Holland, Dennis D Hickstein

Journal: J. Allergy Clin. Immunol.. 2016 08;138(2):628-630.e2.

 

Last Updated: 31 Dec 1969

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

Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.
 

Author(s): Yackov Berkun, Reeval Segel, Paulina Navon-Elkan

Journal: Isr. Med. Assoc. J.. 2017 Jul;19(7):435-437.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Transfer for ADA-SCID Using an Improved Lentiviral Vector (TYF-ADA)
 

Status: Not yet recruiting

Condition Summary: Adenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)

 

Last Updated: 22 Aug 2018

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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: 27 Oct 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: 22 Dec 2017

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