purine nucleoside phosphorylase deficiency (Q3043155)
Jump to navigation
Jump to search
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
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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 |
|
Statements
1 reference
1 reference
1 reference
Identifiers
Purine Nucleoside Phosphorylase Deficiency
1 reference
1 reference