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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adenosine deaminase deficiency


Other Names for this Disease
  • ADA deficiency
  • ADA-SCID
  • Adenosine deaminase deficient severe combined immunodeficiency
  • SCID due to ADA deficiency
  • SCID 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.

Tests & Diagnosis

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Is genetic testing available for adenosine deaminase deficiency?

Yes, genetic testing is available for ADA, the gene known to cause adenosine deaminase deficiency.[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/5/2015

How is adenosine deaminase deficiency diagnosed?

In some states of the United States, newborns are screened for various conditions that can cause severe combined immunodeficiency, including adenosine deaminase deficiency (ADA). In the absence of newborn screening, ADA is typically suspected in people with frequent infections and other characteristic symptoms. The diagnosis can be confirmed by blood tests that demonstrates the following:[1][2]
  • Evidence of combined immunodeficiency such as low levels of certain types of lymphocytes (white blood cells) and/or absent lymphoid tissue (i.e. thymus, tonsils, and lymph nodes)
  • Low (<1%) adenosine deaminase (the enzyme encoded by the ADA gene) activity

Other tests that are helpful in establishing a diagnosis include x-rays that show ADA-associated bone abnormalities and genetic testing that identifies a change (mutation) in each copy of the ADA gene.[1][2]
Last updated: 1/5/2015

References
  1. Michael Hershfield, MD. Adenosine Deaminase Deficiency. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1483/.
  2. Alan P Knutsen, MD. Purine Nucleoside Phosphorylase Deficiency. Medscape Reference. July 2013; http://emedicine.medscape.com/article/887823-overview.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • US National Newborn Screening Status Report (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
  • The Newborn Screening Coding and Terminology Guide Cystic fibrosis created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
Other Names for this Disease
  • ADA deficiency
  • ADA-SCID
  • Adenosine deaminase deficient severe combined immunodeficiency
  • SCID due to ADA deficiency
  • SCID 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.