TY  - JOUR
SP  - 626
VL  - 37
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
IS  - 7
SN  - 1573-2592
UR  - http://doi.org/10.1007/s10875-017-0433-3
A1  - Bradford, KL
A1  - Moretti, FA
A1  - Carbonaro-Sarracino, DA
A1  - Gaspar, HB
A1  - Kohn, DB
JF  - Journal of Clinical Immunology
EP  - 637
AV  - public
Y1  - 2017/10//
TI  - Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations
ID  - discovery1573199
N2  - 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.
KW  - Adenosine Deaminase
KW  -  Clinical trials
KW  -  Gene therapy
KW  -  Lymphopenia
KW  -  Purine metabolism
KW  -  SCID
ER  -