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Adenosine deaminase deficiency

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Adenosine deaminase deficiency
Other namesADA deficiency or ADA-SCID

Adenosine deaminase deficiency is an autosomal recessive[1] metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide.

It accounts for about 15% of all cases of severe combined immunodeficiency (SCID).[2] ADA deficiency may be present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder.[3]


The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and widespread skin rashes. Affected children also grow much more slowly than healthy children and some have developmental delay. Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life.

An association with polyarteritis nodosa has been reported.[4]


Adenosine deaminase deficiency has an autosomal recessive pattern of inheritance.

The enzyme adenosine deaminase is encoded by a gene on chromosome 20. ADA deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Age of onset and severity is related to some 29 known genotypes associated with the disorder.[5]


ADA deficiency is due to a lack of the enzyme adenosine deaminase. This deficiency results in an accumulation of deoxyadenosine,[6] which, in turn, leads to:

Because T cells undergo proliferation and development in the thymus, affected individuals typically have a small, underdeveloped thymus.[7] As a result, the immune system is severely compromised or completely lacking.


The diagnosis is based on clinical features, with a concomitant decreased blood adenosine deaminase level supporting the diagnosis.


Treatments include:[8]

Gene Therapy

On September 1990, the first gene therapy to combat this disease was performed by Dr. William French Anderson on a four-year-old girl, Ashanti DeSilva, at the National Institutes of Health, Bethesda, Maryland, U.S.A.[9] In April 2016 the Committee for Medicinal Products for Human Use of the European Medicines Agency endorsed and recommended for approval a stem cell gene therapy called Strimvelis, for children with ADA-SCID for whom no matching bone marrow donor is available.[10][11]


ADA deficiency was discovered in 1972 by Eloise Giblett, a professor at the University of Washington.[12] The ADA gene was used as a marker for bone marrow transplants. A lack of ADA activity was discovered by Giblett in an immunocompromised transplant candidate. After discovering a second case of ADA deficiency in an immunocompromised patient, ADA deficiency was recognized as the first immunodeficiency disorder.[12]


  1. Liebowitz J, Hellmann DB1, Schnappauf O (2019) Thirty years of followup in 3 patients with familial polyarteritis nodosa due to adenosine deaminase 2 deficiency. J Rheumatol
  2. name=AV1998>
  3. p347, The Immune System Peter Parham, Garland Science, London and New York, 2009
  4. 8.0 8.1
  5. House, Douglas W., (1 April 2016) European Ad Comm backs Glaxo's stem cell therapy Strimvelis for rare autoimmune disorder, Seeking Alpha, Retrieved 13 April 2016
  6. 12.0 12.1 Motulsky A, Gartler S. "Biographical Memoirs: Eloise R. Giblett". National Academy of Sciences.

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