Purine nucleoside phosphorylase deficiency
MONDO:0013171Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
Also known as: PNP deficiency, PNPase deficiency, immunodeficiency due to purine nucleoside phosphorylase deficiency, purine nucleoside phosphorylase deficiency, purine-nucleoside phosphorylase deficiency, nucleoside phosphorylase deficiency
2 clinical trials for this condition and its sub-types, 2 tagged with Purine nucleoside phosphorylase deficiency itself.
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Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC