Adenosine deaminase deficiency

Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections ...1

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Symptoms of Adenosine deaminase deficiency

Symptoms: In most cases, signs and symptoms of adenosine deaminase deficiency (ADA) develop before 6 months of age. These affected babies are usually diagnosed with severe combined immunodeficiency (SCID), a condition characterized by a reduced or absent immune response. Babies ...2

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Causes of Adenosine deaminase deficiency

Cause: Adenosine deaminase deficiency is caused by changes (mutations) in the ADA gene. This gene encodes an enzyme that is found in the lymphocytes (specialized white blood cells), which are an important part of the immune system and help protect ...3

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Causes List for Adenosine deaminase deficiency

Some possible causes of Adenosine deaminase deficiency or similar disorders may include:4

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Types of Adenosine deaminase deficiency

Some types of this condition may include:5 Types of adenosine deaminase deficiency:

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Diagnosis of Adenosine deaminase deficiency

Diagnosis: Yes, genetic testing is available for ADA, the gene known to cause adenosine deaminase deficiency.[2] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic ...6

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Genetics of Adenosine deaminase deficiency

Genetic Changes: Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called ...7

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Treatments: Adenosine deaminase deficiency

Treatment: The treatment of adenosine deaminase deficiency (ADA) usually consists of the following:[2]

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ adenosine-deaminase-deficiency
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5748/ adenosine-deaminase-deficiency
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NCI Thesaurus
  6. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5748/ adenosine-deaminase-deficiency
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ adenosine-deaminase-deficiency

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