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Adenosine deaminase deficiency: a review.

Aisling M Flinn1,2, Andrew R Gennery3,4

  • 1Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

Orphanet Journal of Rare Diseases
|April 26, 2018
PubMed
Summary

Adenosine deaminase deficiency causes severe combined immunodeficiency, impacting lymphocytes and leading to various health issues. Current treatments include enzyme replacement, stem cell transplant, and gene therapy.

Keywords:
Adenosine deaminaseGene therapyHaematopoietic stem cell transplantationNeurodevelopmentPulmonary alveolar proteinosisisSevere combined immunodeficiency

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Adenosine deaminase (ADA) deficiency results in toxic purine by-product accumulation, primarily affecting lymphocytes and causing severe combined immunodeficiency (ADA-SCID).
  • Clinical manifestations extend beyond immunodeficiency, including skeletal, neurodevelopmental, and pulmonary issues like pulmonary-alveolar proteinosis.
  • Patients typically present in infancy with recurrent infections or respiratory distress.

Purpose of the Study:

  • To review the fundamental biology of ADA deficiency.
  • To outline the clinical presentation and diagnostic approaches for ADA deficiency.
  • To discuss current and emerging treatment strategies for ADA deficiency.

Main Methods:

  • Review of existing literature on Adenosine Deaminase deficiency.
  • Analysis of clinical case studies and treatment outcomes.
  • Synthesis of biological, clinical, and therapeutic information.

Main Results:

  • Enzyme replacement therapy offers temporary symptom relief and partial immune reconstitution but requires lifelong treatment and may have limited long-term efficacy.
  • Hematopoietic stem cell transplantation is a well-established curative option, especially with matched donors.
  • Gene addition therapy using autologous hematopoietic stem cells shows promising immunological and clinical efficacy.

Conclusions:

  • ADA deficiency is a serious genetic disorder requiring timely diagnosis and intervention.
  • Multiple treatment modalities exist, each with distinct advantages and limitations.
  • Gene therapy represents a significant advancement, offering a potentially curative approach with improved long-term outcomes.