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

• pegademase bovine (Adagen) given by weekly IM injection
• gene therapy (investigational)
  • protocol (no HLA identical sibling)
    • nonmyeloablative conditioning with busulfan
    • infusions of autologous CD34+ bone marrow cells that had been transduced with a retroviral vector containing the ADA gene
    • no enzyme-replacement therapy given following infusion of cells

More general terms

• combined immune deficiency

Database

• OMIM: https://mirror.omim.org/entry/102700