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Purine nucleoside phosphorylase deficiency

Related gene: PNP

Inheritance pattern: Autosomal recessive

Purine nucleotide phosphorylase (PNP) deficiency is a rare recessive disorder resulting in moderate to severe immunodeficiency, with reduced T cell numbers and risk of recurrent infections, as well as autoimmune disease. Autoimmune hemolytic anemia is particularly frequent in this condition. Immunoglobulin (Ig) replacement therapy and prophylactic antibiotics are warranted for treatment. Hematopoietic stem cell transplant (HSCT) can be curative for the immunologic features of PNP deficiency. Neurologic disease is also frequently described in individuals with PNP deficiency, including neurodevelopmental delay, tremors, spasticity, and ataxia.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA