has material basis in germline mutation in PNP purine nucleoside phosphorylase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency https://www.malacards.org/card/purine_nucleoside_phosphorylase_deficiency ICD9:277.2 UMLS:C0268125 GARD:0004606 MONDO:0013171 OMIM:613179 PNP deficiency NCIT:C176817 Orphanet:760 purine nucleoside phosphorylase deficiency immunodeficiency due to purine nucleoside phosphorylase deficiency purine-nucleoside phosphorylase deficiency PNPase deficiency MESH:C562587 DOID:5813 HGNC:7892 NANDO:1200325 Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. SCTID:60743005 nucleoside phosphorylase deficiency NCIT:C3963 MEDGEN:75653 NANDO:2200698 severe combined immunodeficiency non-SCID combined immunodeficiency inborn disorder of purine metabolism