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How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)

Donald B Kohn1, H Bobby Gaspar2

  • 1Departments 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.

Journal of Clinical Immunology
|February 15, 2017
PubMed

Insights

Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) treatment has advanced significantly. Newborn screening and therapies like gene therapy offer improved outcomes for this rare immune disorder.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) is a rare, inherited disorder affecting 10-15% of SCID cases.
  • Historically fatal, early diagnosis via newborn screening and novel therapies have dramatically improved ADA SCID prognosis.
  • Multiple treatment modalities are now available, offering hope for affected infants.

Purpose of the Study:

  • To review current therapeutic options for ADA SCID.
  • To propose an evidence-based treatment algorithm for ADA SCID management.
  • To highlight the growing role of gene therapy in treating ADA SCID.

Main Methods:

  • Review of existing literature on ADA SCID treatments.
  • Analysis of safety and efficacy data for hematopoietic stem cell transplantation (HSCT), gene therapy (GT), and enzyme replacement therapy (ERT).
  • Development of a tiered treatment recommendation algorithm.

Main Results:

  • Allogeneic HSCT from matched sibling/family donors is a primary option.
  • Gene therapy (autologous HSCT with gene correction) shows promising safety and efficacy.
  • Unrelated/haplo-identical HSCT and long-term ERT remain viable alternatives.

Conclusions:

  • A treatment algorithm prioritizing matched family HSCT, followed by gene therapy, is proposed for ADA SCID.
  • Gene therapy represents a significant advancement in ADA SCID treatment.
  • Individualized treatment decisions should consider donor availability and therapeutic efficacy.

Keywords:
Severe combined immune deficiencyadenosine deaminase deficiencyenzyme replacement therapygene therapyhematopoietic stem cell transplantation

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