PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. 19657670 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Potent orally bioavailable purine nucleoside phosphorylase inhibitor BCX-4208 induces apoptosis in B- and T-lymphocytes--a novel treatment approach for autoimmune diseases, organ transplantation and hematologic malignancies. 20399911 2010