# Partial Purine Nucleoside Phosphorylase Deficiency: an Unexpected Diagnosis in an Adult Patient

**Authors:** Manisha Ahuja, Lynette Fairbanks, Catherine Stroud, Andrew Schaefer, Suzanne Elizabeth Elcombe

PMC · DOI: 10.1007/s10875-025-01941-8 · Journal of Clinical Immunology · 2026-02-02

## Full-text entities

- **Genes:** PNP (purine nucleoside phosphorylase) [NCBI Gene 4860] {aka NP, PRO1837, PUNP}, SLC6A3 (solute carrier family 6 member 3) [NCBI Gene 6531] {aka DAT, DAT1, PKDYS, PKDYS1}
- **Diseases:** chorea (MESH:D002819), immunodeficiency (MESH:D007153), SCID (MESH:D053632), pneumonia (MESH:D011014), bronchiectasis (MESH:D001987), myoclonus (MESH:D009207), PNP deficiency (MESH:C562587), ataxia (MESH:D001259), cerebellar damage (MESH:D002526), neurological damage (MESH:D020196), ADA deficiency (MESH:C531816), sino-pulmonary infections (MESH:D012141), neurological deficit (MESH:D009461), hypotonia (MESH:D009123), skin granulomas (MESH:D006099), developmental delay (MESH:D002658), chest and sinus infections (MESH:D012852), haematological malignancies (MESH:D009369), dopaminergic deficiency (MESH:D009422), spasticity (MESH:D009128), macular dystrophy (MESH:D008268), dystonia (MESH:D004421), autoimmunity (MESH:D001327), rash (MESH:D005076), infection (MESH:D007239)
- **Chemicals:** deoxyguanosine (MESH:D003849), nucleosides (MESH:D009705), dGTP (MESH:C029603), inosine (MESH:D007288), azithromycin (MESH:D017963), Purine (MESH:C030985), urate (MESH:D014527), EBSS (-), deoxyinosine (MESH:C012271), nitrogen (MESH:D009584), guanine (MESH:D006147), guanosine (MESH:D006151), GTP (MESH:D006160), hypoxanthine (MESH:D019271)
- **Species:** Homo sapiens (human, species) [taxon 9606], Mus musculus (house mouse, species) [taxon 10090]
- **Mutations:** c.701G > C, arginine to proline, c.769 C > G, p.His257Asp
- **Cell lines:** COS — Chlorocebus aethiops (Green monkey), Transformed cell line (CVCL_0223)

## Full text

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Source: https://tomesphere.com/paper/PMC12864346