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Purine nucleoside phosphorylase deficiency

ORPHA:760 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(2)

  • Abnormal T cell morphologyHP:0002843
  • Decreased urinary urateHP:0011935

Frequent (79-30%)(9)

  • Abnormality of the nervous systemHP:0000707
  • Autoimmune hemolytic anemiaHP:0001890
  • AutoimmunityHP:0002960
  • Humoral immunodeficiencyHP:0005363
  • HypouricemiaHP:0003537
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Severe combined immunodeficiencyHP:0004430
  • Unusual gastrointestinal infectionHP:0032166

Occasional (29-5%)(14)

  • Abnormal central motor functionHP:0011442
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cerebral palsyHP:0100021
  • Decreased proportion of CD3-positive T cellsHP:0045080
  • Decreased total lymphocyte countHP:0001888
  • Global developmental delayHP:0001263
  • HyperactivityHP:0000752
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • NeoplasmHP:0002664
  • Spastic paraparesisHP:0002313
  • SpasticityHP:0001257

Very rare (<4-1%)(4)

  • Autoimmune thrombocytopeniaHP:0001973
  • Sensorineural hearing impairmentHP:0000407
  • StrokeHP:0001297
  • Systemic lupus erythematosusHP:0002725