purine nucleoside phosphorylase deficiency

Term ID

DOID:5813

Synonyms

• deficiency of inosine phosphorylase
• PNP deficiency
• Purine-Nucleoside Phosphorylase deficiency

Definition

A 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. (3)

References

• GARD:4606
• ICD10CM:D81.5
• MESH:C562587
• NCI:C176817
• OMIM:613179
• ORDO:760
• SNOMEDCT_US_2023_03_01:60743005
• UMLS_CUI:C0268125

Ontology

Human Disease   ( DOID:5813 )