Article
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
Journal of clinical immunology - 1 Oct 2015
Baffelli Renata, Notarangelo Lucia D, Imberti Luisa, Hershfield Michael S, Serana Federico, Santisteban Ines, Bolda Federica, Porta Fulvio, Lanfranchi Arnalda
Abstract excerpt
PURPOSE: We carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes of patients treated with enzyme replacement or transplantation, were comparable to those obtained in multicenter...
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