Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.
Department of Pediatrics, University of California, Los Angeles (UCLA), 3163 Terasaki Life Science Bldg., 610 Charles E. Young Drive East, Los Angeles, CA, 90095, USA.
Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, UK.
Department of Microbiology, Immunology and Molecular Genetics, UCLA, Los Angeles, CA, USA.
Department of Pediatrics, University of California, Los Angeles (UCLA), 3163 Terasaki Life Science Bldg., 610 Charles E. Young Drive East, Los Angeles, CA, 90095, USA. [email protected]
Department of Microbiology, Immunology and Molecular Genetics, UCLA, Los Angeles, CA, USA. [email protected]
Department of Molecular & Medical Pharmacology, UCLA University of California, Los Angeles, CA, USA. [email protected]
- Published Article
Journal of Clinical Immunology
- Publication Date
Oct 01, 2017
Deficiency of adenosine deaminase (ADA, EC220.127.116.11), 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.
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This record was last updated on 06/09/2018 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/28842866