期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 37, 期 7, 页码 626-637出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-017-0433-3
关键词
Adenosine Deaminase; Purine metabolism; SCID; Lymphopenia; Gene therapy; Clinical trials
类别
资金
- Doris Duke Charitable Foundation
- U.S. Food and Drug Administration (Orphan Product Grant) [R01FD003005]
- National Institutes of Health [P50-HL54850, P01-HL073104, U01-AI100801, R01-A1074043]
- California Institute for Regenerative Medicine (UCLA-UCI Alpha Stem Cell Clinic)
- National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital
- MRC UK
- ASH Hematology Opportunities for the Next-Generation of Research Scientists (HONORS) Award
- University College London
- Medical Research Council [MR/K015427/1] Funding Source: researchfish
- MRC [MR/K015427/1] Funding Source: UKRI
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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