Contents

Search

severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency

Epidemiology: - 25% of severe combined immunodeficiency disease cases linked to adenosine deaminase deficiency Genetics: - associated with deficiency in adenosine deaminase (ADA) Clinical manifestations: - severe combined immunodeficiency - infections - death Laboratory: - adenosine deaminase in erythrocytes - adenosine deaminase in leukocytes - adenosine deaminase in fibroblasts - adenosine deaminase in trophoblasts - adenosine deaminase in chorionic villus - adenosine deaminase in dried blood spot Management: 1) pegademase bovine (Adagen) given by weekly IM injection 2) gene therapy (investigational) - protocol (no HLA identical sibling) 1] nonmyeloablative conditioning with busulfan 2] infusions of autologous CD34+ bone marrow cells that had been transduced with a retroviral vector containing the ADA gene 3] no enzyme-replacement therapy given following infusion of cells

Database Correlations

OMIM 102700

References

  1. Aiuti A et al Gene therapy for immunodeficiency due to adenosine deaminase deficiency N Engl J Med 2009 Jan 29; 360:447. PMID: 19179314