Purine nucleoside phosphorylase deficiency

Defects in NP are the cause of a severe T-cell immunodeficiency with neurologic disorder in children. It is an autosomal recessive disorders with decreased T cells and lymphopenia and antibody deficiency. The enzyme deficiency result in accumulation of toxic metabolites for T-cell development.

Alternative names

PNP

Nucleoside Phosphorylase Deficiency

Ataxia with deficient cellular immunity

Classification

  • Combined B and T cell immunodeficiencies
    • Deficiencies of purine metabolism

Inheritance

Autosomal recessive

OMIM

#202500 Severe combined immunodeficiency 1, SCID1

+164050 Nucleoside phosphorylase; NP

Cross references

Phenotypically related immunodeficiencies

IDR factfile for ADA deficiency

Incidence

1:54,000 (Switzerland) to 1:200,000 (Japan)