A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.
Abstract
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).1,2
ADA deficiency is autosomal recessively inherited
through mutations in the ADA gene, which is located on
chromosome 20q13.12. Herein, we will describe the identification of a novel splicing mutation in the ADA gene in a
patient with SCID
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