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Purine Nucleoside Phosphorylase Deficiency
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that is caused by mutation in the PNP gene and characterized mainly by decreased T-cell function.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that is caused by mutation in the PNP gene and characterized mainly by decreased T-cell function.
Join the Purine Nucleoside Phosphorylase Deficiency community
Talk with people who understand, share what helps, and find support from others living with purine nucleoside phosphorylase deficiency. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.