Inherited immune disorders
Purine nucleoside phosphorylase deficiency
PNP deficiency is a genetic disorder of purine breakdown. Toxic metabolites particularly harm T-cell immunity, and affected people may have recurrent infections, autoimmunity and neurologic or developmental problems.
Other names and abbreviations
PNP deficiency · PNP-SCID · PNP-def · PNP-associated combined immunodeficiency · Purine-nucleoside phosphorylase deficiency
Where transplant fits
Allogeneic transplantation can restore immune function and provide enzyme-producing donor cells. A suitable unrelated donor is an option. Early treatment may limit further harm, but established neurologic injury may persist.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Often presents in infancy or childhood, but disease severity and age of recognition vary.
- Other treatment options
- Infection prevention and treatment, immunoglobulin support and neurologic, nutritional or developmental care address existing needs.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Immune recovery and neurologic recovery are separate outcomes. Small or mixed historical cohorts cannot predict the response of an individual child.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Purine nucleoside phosphorylase deficiency
MedlinePlus Genetics, US National Library of Medicine · Accessed 2026-09-05 - Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021
Understanding can become action.
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