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Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.

Authors
  • Bradford, Kathryn L1
  • Moretti, Federico A2
  • Carbonaro-Sarracino, Denise A3
  • Gaspar, Hubert B2
  • Kohn, Donald B4, 5, 6
  • 1 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.
  • 2 Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, UK.
  • 3 Department of Microbiology, Immunology and Molecular Genetics, UCLA, Los Angeles, CA, USA.
  • 4 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]
  • 5 Department of Microbiology, Immunology and Molecular Genetics, UCLA, Los Angeles, CA, USA. [email protected]
  • 6 Department of Molecular & Medical Pharmacology, UCLA University of California, Los Angeles, CA, USA. [email protected]
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
Oct 01, 2017
Volume
37
Issue
7
Pages
626–637
Identifiers
DOI: 10.1007/s10875-017-0433-3
PMID: 28842866
Source
Medline
Keywords
License
Unknown

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.

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