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Autosomal non-syndromic agammaglobulinemia

ORPHA:33110 · Clinical subtype · Subtype of disorder

HPO 表現型(共 29 項)

Very frequent (99-80%)(13)

  • AgammaglobulinemiaHP:0004432
  • Chronic otitis mediaHP:0000389
  • ConjunctivitisHP:0000509
  • CoughHP:0012735
  • DiarrheaHP:0002014
  • FatigueHP:0012378
  • FeverHP:0001945
  • ImmunodeficiencyHP:0002721
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent skin infectionsHP:0001581
  • SinusitisHP:0000246
  • Skin rashHP:0000988

Frequent (79-30%)(3)

  • ArthritisHP:0001369
  • Failure to thriveHP:0001508
  • OsteomyelitisHP:0002754

Occasional (29-5%)(13)

  • Abnormal pinna morphologyHP:0000377
  • BronchiectasisHP:0002110
  • CellulitisHP:0100658
  • Decreased total neutrophil countHP:0001875
  • DehydrationHP:0001944
  • EpicanthusHP:0000286
  • HepatitisHP:0012115
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • MalabsorptionHP:0002024
  • MeningitisHP:0001287
  • SepsisHP:0100806
  • VerrucaeHP:0200043