ADA deficiency

ADA deficiency
Lack of normal adenosine deaminase (ADA) activity, a genetic (inherited) condition causing one form of severe combined immunodeficiency ((SCID) disease. It is said to be "combined" in that there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules. The ADA gene is located on chromosome 20 in the region of bands q12-q13.11. The complete sequence and structure of the gene is known. A variety of mutant alleles (altered forms of the gene) have been identified, including basepair substitutions and deletions. ADA deficiency is of special interest in the history of genetics. The first successful instance of gene therapy in humans was carried out in 1990 by Drs. W. French Anderson, R. Michael Blaese and Kenneth W. Culver who infused genetically engineered blood cells to repair ADA deficiency.

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Medical dictionary. 2011.

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Look at other dictionaries:

  • ADA deficiency. — See adenosine deaminase deficiency. * * * …   Universalium

  • ADA deficiency — see adenosine deaminase deficiency …   The new mediacal dictionary

  • ADA deficiency. — See adenosine deaminase deficiency …   Useful english dictionary

  • Adenosine deaminase (ADA) deficiency — A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules. ADA deficiency is of special… …   Medical dictionary

  • Дефицит Аденозин Дезаминазы (Ада Дефицит) (Adenosine Deaminase Deficiency, Ada Deficiency) — наследственное заболевание, встречающееся у одного из каждых 25 000 младенцев и характеризующееся дефицитом содержания в организме аденозин дезаминазы (АДА) (adenosine deaminase (ADA)), фермента, участвующего в метаболизме пуринов. Дефицит… …   Медицинские термины

  • Deficiency, adenosine deaminase (ADA) — A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules. ADA deficiency is of special… …   Medical dictionary

  • ADA — noun an enzyme found in mammals that can catalyze the deamination of adenosine into inosine and ammonia ADA deficiency can lead to one form of severe combined immunodeficiency disease the gene encoding ADA was one of the earlier human genes to be …   Useful english dictionary

  • Ада Дефицит (Ada Deficiency) — см. Дефицит аденозин дезаминазы. Источник: Медицинский словарь …   Медицинские термины

  • adenosine deaminase deficiency — (ADA deficiency) a genetic disorder affecting about one baby in 25,000 and characterized by a defect in adenosine deaminase (ADA), an enzyme that is involved in purine metabolism. Deficiency of this enzyme results in selective damage to the… …   Medical dictionary

  • adenosine deaminase deficiency — ADA deficiency a genetic disorder affecting about one baby in 25,000 and characterized by a defect in adenosine deaminase (ADA), an enzyme that is involved in purine metabolism. Deficiency of this enzyme results in selective damage to the… …   The new mediacal dictionary

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