A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation

Adenosine deaminase (ADA) deficiency is among the most common causes of severe combined immunodeficiency, characterized by dysfunction of the T, B, and natural killer (NK) cells (T-B-NK-SCID) and severe lymphopenia.1 ADA is a key enzyme in the purine salvage pathway, the absence of which causes lymph-toxic deoxyadenosine triphospate (dATP) accumulation, inhibiting ribonucleotide reductase, a critical enzyme for DNA replication and repair. This effect impairs the lymphocyte development and function resulting in severe combined immune deficiency (SCID).
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Brief Communication Source Type: research