Purine Nucleoside Phosphorylase Deficiency Follow-up

Updated: Aug 07, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
  • Print
Follow-up

Further Outpatient Care

See the list below:

  • Intravenous immunoglobulin (IVIG) therapy is typically continued for 6-12 months after bone marrow transplantation. Reimmunization of the patient begins approximately 1 year after transplantation. Live viral vaccines should be avoided.

  • Bone marrow transplantation does not correct the neurologic problems associated with purine nucleoside phosphorylase deficiency. Ongoing therapy for these problems should continue.

Next:

Further Inpatient Care

See the list below:

  • Patients with adenosine deaminase (ADA) deficiency or purine nucleoside phosphorylase (PNP) deficiency who have acute infections may require hospitalization for diagnostic studies to identify opportunistic pathogens.

  • For stem cell reconstitution, patients are typically hospitalized in single-occupancy protective reverse-isolation rooms with high-efficiency particulate air-filtration systems. Patients should remain in isolation until engraftment is evident.

Previous
Next:

Prognosis

See the list below:

  • The patient's prognosis depends on the success of immune reconstitution of the T-cell and B-cell systems.

  • If immune reconstitution is successful, the patient's prognosis is good. However, bone marrow transplantation does not correct the neurologic disease.

Previous
Next:

Patient Education

See the list below:

  • Genetic counseling: Purine nucleoside phosphorylase deficiency is an autosomal recessive inherited immunodeficiency. If purine nucleoside phosphorylase deficiency is diagnosed in a child, the parents have a 25% risk of having affected children in subsequent pregnancies.

  • Prenatal diagnosis: Prenatal diagnosis can be performed (see Special Concerns below).

Previous