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Non-syndromic agammaglobulinemia

ORPHA:229717 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(13)

  • Abnormal lymphocyte morphologyHP:0004332
  • DiarrheaHP:0002014
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • FeverHP:0001945
  • ImmunodeficiencyHP:0002721
  • Inflammatory abnormality of the eyeHP:0100533
  • Otitis mediaHP:0000388
  • Recurrent cutaneous abscess formationHP:0100838
  • Recurrent respiratory infectionsHP:0002205
  • SinusitisHP:0000246
  • Skin rashHP:0000988
  • Skin ulcerHP:0200042

Frequent (79-30%)(3)

  • Abnormality of neutrophilsHP:0001874
  • Abnormality of the lymphatic systemHP:0100763
  • PneumoniaHP:0002090

Occasional (29-5%)(12)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the tonsilsHP:0100765
  • AnemiaHP:0001903
  • ArthritisHP:0001369
  • AutoimmunityHP:0002960
  • CellulitisHP:0100658
  • Clinodactyly of the 5th toeHP:0001864
  • MalabsorptionHP:0002024
  • MeningitisHP:0001287
  • SepsisHP:0100806
  • Short statureHP:0004322
  • ThrombocytopeniaHP:0001873