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

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.

• Authors: Kathryn L Bradford, Federico A Moretti, Denise A Carbonaro-Sarracino, Hubert B Gaspar, Donald B Kohn
• Journal: Journal of clinical immunology (J Clin Immunol) Vol. 37 Issue 7 Pg. 626-637 (Oct 2017) ISSN: 1573-2592 [Electronic] Netherlands
• PMID: 28842866 (Publication Type: Journal Article, Review)

Chemical References

• Adenosine Deaminase

Topics

• Adenosine Deaminase (deficiency, genetics)
• Animals
• Disease Models, Animal
• Humans
• Severe Combined Immunodeficiency (genetics)