Why the study?
ADA deficiency causes toxic metabolite accumulation damaging immune and non-immune organs, prompting the need for management guidelines based on Canadian centre experience.
This report provides Canadian expert consensus guidelines for the management and treatment of patients with ADA deficiency.
Offers Canadian clinicians a treatment algorithm for ADA deficiency; extends expert consensus to incorporate gene therapy with HSCT and ERT.
Adenosine deaminase (ADA) deficiency is a form of severe combined immunodeficiency. Aberrant mutations in the ADA gene result in loss of ADA activity and the toxic accumulation of metabolites that damage both immune and non-immune organs. While patients with complete ADA deficiency present during infancy with failure to thrive, recurrent bacterial, viral and fungal infections, those with incomplete (partial) deficiency may present at a later age with milder symptoms associated with reduced T, B, and NK cell subpopulations. Based on experience in Canadian centres, we provide management guidelines for patients with ADA deficiency, including a treatment algorithm for use of hematopoietic stem cell transplantation, gene therapy, and enzyme replacement therapy. Statement of novelty: Herein, we define guidelines for the management and treatment of patients with ADA deficiency.
No takes yet. Share an insight, caveat, or question.
Brager et al. (2020) conducted a review in Adenosine deaminase (ADA) deficiency. Management guidelines (hematopoietic stem cell transplantation, gene therapy, and enzyme replacement therapy) was evaluated. The Canadian Expert Committee provides management guidelines and a treatment algorithm for patients with ADA deficiency, including hematopoietic stem cell transplantation, gene therapy, and ERT.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: