[Purine nucleoside phosphorylase (PNP) deficiency].

Article

[Purine nucleoside phosphorylase (PNP) deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1996

Sakiyama T

Abstract excerpt

The clinical manifestation, diagnosis, pathogenesis, pathophysiology and treatment of purine nucleoside phosphorylase (PNP) deficiency is overviewed. Among the severe combined immunodeficiency syndrome (SCID), PNP deficiency was 2ndly found as an autosomal recessively heritable purine metabolic d...

Topics

Bone Marrow Transplantation
Genetic Therapy
Humans
Mutation
Purine-Nucleoside Phosphorylase
Severe Combined Immunodeficiency
T-Lymphocytes

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.