Purine nucleoside phosphorylase deficiency

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Synonyms: PNP deficiency | PNPase deficiency

A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections autoimmunity and malignancy as well as neurologic manifestations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Purine nucleoside phosphorylase deficiency?

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Advocacy Organizations

Accessia Health Foundation

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.