purine nucleoside phosphorylase deficiency

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.

Signs and symptoms

• Decreased urinary urate
• Ataxia
• Pure red cell aplasia
• Decreased total lymphocyte count
• Delayed gross motor development
• Elevated urinary inosine level
• Elevated urinary guanosine level
• Decreased mitogen-induced T-cell proliferation
• Hypouricemia
• Recurrent lower respiratory tract infections

Also known as: PNP deficiency; Purine-Nucleoside Phosphorylase deficiency; deficiency of inosine phosphorylase