Living with Purine-nucleoside phosphorylase deficiency
A rare genetic immune condition with low numbers of infection-fighting cells and repeated infections starting in infancy.
Understanding Purine-nucleoside phosphorylase deficiency
People have low numbers of T cells and sometimes B cells. The most severely affected have severe combined immunodeficiency (SCID). Repeated infections usually begin in infancy or early childhood, most often in the sinuses and lungs. About two-thirds also have nervous system problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections, often in the sinuses and lungs
- Low T cell numbers
- Low antibody production
- Autoimmune problems, such as autoimmune anemia
- Slow growth in infancy
- Developmental delay or poor balance and stiffness
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PNP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PNP gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: deficiency of inosine phosphorylase; deficiency of purine-nucleoside phosphorylase; immunodeficiency due to purine nucleoside phosphorylase deficiency; np - nucleoside phosphorylase deficiency; np deficiency; nucleoside phosphorylase deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Purine-nucleoside phosphorylase deficiency.
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