(Q3043155)
English
purine nucleoside phosphorylase deficiency
combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function
- PNP deficiency
- Purine-Nucleoside Phosphorylase deficiency
- deficiency of inosine phosphorylase
- Purine nucleoside phosphorylase deficiency
Statements
1 reference
1 reference
1 reference
Identifiers
Purine Nucleoside Phosphorylase Deficiency
1 reference
1 reference