Article
T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.
Blood - 1 May 2001
Ariga T, Oda N, Yamaguchi K, Kawamura N, Kikuta H, Taniuchi S, Kobayashi Y, Terada K, Ikeda H, Hershfield M S, Kobayashi K, Sakiyama Y
Abstract excerpt
Inherited deficiency of adenosine deaminase (ADA) results in one of the autosomal recessive forms of severe combined immunodeficiency. This report discusses 2 patients with ADA deficiency from different families, in whom a possible reverse mutation had occurred. The novel mutations were identified in the ADA gene from the patients, and both their parents were revealed to be carriers. Unexpectedly, established...
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