Article
Adenosine deaminase deficiency in adults.
Blood - 15 Apr 1997
Ozsahin H, Arredondo-Vega F X, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, Aguzzi A, Lederman H M, Fleischman A, Winkelstein J A, Seger R A, Hershfield M S
Abstract excerpt
Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic, immunologic, and genetic findings in two ADA-deficient adults with distinct phenotypes. Patient no. 1 (39 years of age) had combined immunodeficiency. She had frequent infections, lymphopenia, and recurrent hepatitis as a child but did relatively well in her second and third decades. Then...
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