title: How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).
abstract: Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase. Based on growing evidence of safety and efficacy from GT, we propose a treatment algorithm for patients with ADA SCID that recommends HSCT from a matched family donor, when available, as a first choice, followed by GT as the next option, with allogeneic HSCT from an unrelated or haplo-identical donor or long-term ERT as other options.
authors.affiliation: Departments of Microbiology, Immunology & Molecular Genetics; Pediatrics; and Molecular and Medical Pharmacology, University of California, Los Angeles, 3163 Terasaki Life Science Bldg., 610 Charles E. Young Drive East, Los Angeles, CA, 90095, USA. dkohn1@mednet.ucla.edu.
authors.forename: Donald B
authors.initials: DB
authors.lastname: Kohn
authors.affiliation: Molecular and Cellular Immunology Section, UCL Institute of Child Health, University College London, London, UK.
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000627:therapeutic use*; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000628:therapy*; D000465:Algorithms; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy; D015316:Genetic Therapy; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology*; D018380:Hematopoietic Stem Cell Transplantation; D006648:Histocompatibility; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000628:therapy*
chemical_list: D006680:HLA Antigens; D000243:Adenosine Deaminase
keywords: Severe combined immune deficiency; adenosine deaminase deficiency; enzyme replacement therapy; gene therapy; hematopoietic stem cell transplantation