Catalog

Immunodeficiency due to purine nucleoside phosphorylase deficiency

No MMS code

Link to WHO Definition

Immunodeficiency due to purine nucleoside phosphorylase deficiency – http://id.who.int/icd/entity/1771940876

Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anaemia, and 2/3 have neurological signs (ataxia, spastic tetraplegia and tremor).