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"Purine-nucleoside" phosphorylase deficiency
- Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the ... invaders such as bacteria and viruses.People with purine nucleoside phosphorylase deficiency have low numbers of immune system cells called ...
- ... gene mutations have been identified in individuals with purine nucleoside phosphorylase deficiency, which is an immune system disorder in which ... that can be life-threatening. Some people with purine nucleoside phosphorylase deficiency also have neurological problems, such as intellectual disability ...
