Adenosine Deaminase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.

**Synonyms:** - ADA-SCID - Adenosine Deaminase Severe Combined Immune Deficiency - Adenosine Deaminase Severe Combined Immunodeficiency