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Purine nucleoside phosphorylase deficiency.

M L Markert1

  • 1Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.

Immunodeficiency Reviews
|January 1, 1991
PubMed
Summary
This summary is machine-generated.

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Purine nucleoside phosphorylase (PNP) deficiency is a rare genetic disorder causing severe immune deficiency and neurological issues. Early diagnosis and bone marrow transplantation are crucial due to the grave prognosis.

Area of Science:

  • Biochemistry
  • Immunology
  • Genetics

Background:

  • Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited condition.
  • It accounts for approximately 4% of severe combined immunodeficiency cases.
  • Patients typically present with recurrent infections in infancy.

Observation:

  • Neurologic disorders, including spasticity and developmental delay, affect two-thirds of patients.
  • Autoimmune diseases, such as hemolytic anemia, occur in one-third of cases.
  • T- and B-cell immunity are impaired, impacting immune function.

Findings:

  • Elevated dGTP levels inhibit cell division, while depressed GTP may correlate with neurologic dysfunction.
  • A point mutation in the PNP gene on chromosome 14 causes the deficiency.

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  • The condition has a grave prognosis, with most reported patients dying before age 30.

    • Implications:

    • Prenatal diagnosis is available.
    • Current therapies like bone marrow transplantation, transfusions, and dietary supplementation have limited success.
    • Bone marrow transplantation is recommended for all patients, with gene therapy as a future possibility.