Purine Nucleoside Phosphorylase Deficiency (PNPD)

Purine Nucleoside Phosphorylase Deficiency, also known as purine-nucleoside phosphorylase deficiency, is related to lymphopenia and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency, and has symptoms including ataxia, tremor and quadriparesis. An important gene associated with Purine Nucleoside Phosphorylase Deficiency is PNP (Purine Nucleoside Phosphorylase), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Mycophenolic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotypes are abnormal t cell morphology and decreased urinary urate