@article{discovery1573199,
         journal = {Journal of Clinical Immunology},
            year = {2017},
           title = {Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations},
           month = {October},
          number = {7},
           pages = {626--637},
            note = {This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.},
          volume = {37},
          author = {Bradford, KL and Moretti, FA and Carbonaro-Sarracino, DA and Gaspar, HB and Kohn, DB},
            issn = {1573-2592},
        abstract = {Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T(-) B(-) NK(-)), thus underscoring the importance of functional purine metabolism for the development of the immune defense. While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC). We review the pathogenic mechanisms and clinical manifestations of ADA SCID.},
             url = {http://doi.org/10.1007/s10875-017-0433-3},
        keywords = {Adenosine Deaminase, Clinical trials, Gene therapy, Lymphopenia, Purine metabolism, SCID}
}