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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adenosine deaminase deficiency


Other Names for this Disease
  • ADA deficiency
  • Severe combined immunodeficiency due to adenosine deaminase deficiency
  • Severe combined immunodeficiency due to ADA deficiency
  • SCID due to ADA deficiency
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2] The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.[3][8061
Last updated: 1/4/2015

References

  1. Adenosine deaminase deficiency. Genetics Home Reference. July 2013; http://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency.
  2. Michael Hershfield, MD. Adenosine Deaminase Deficiency. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1483/.
  3. Arye Rubinstein, MD. Adenosine deaminase deficiency: Treatment. UpToDate. September 2013; Accessed 1/4/2015.
  4. Alan P Knutsen, MD. Purine Nucleoside Phosphorylase Deficiency. Medscape Reference. July 2013; http://emedicine.medscape.com/article/887823-overview.
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Basic Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of immunodeficiency diseases.
  • Genetics Home Reference (GHR) contains information on Adenosine deaminase deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Adenosine deaminase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ADA deficiency
  • Severe combined immunodeficiency due to adenosine deaminase deficiency
  • Severe combined immunodeficiency due to ADA deficiency
  • SCID due to ADA deficiency
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.