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X-linked agammaglobulinemia

ORPHA:47 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(17)

  • Abnormality of the lymphatic systemHP:0100763
  • Abnormality of the tonsilsHP:0100765
  • AgammaglobulinemiaHP:0004432
  • Chronic diarrheaHP:0002028
  • Chronic otitis mediaHP:0000389
  • ConjunctivitisHP:0000509
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • FeverHP:0001945
  • GlossoptosisHP:0000162
  • ImmunodeficiencyHP:0002721
  • Recurrent cutaneous abscess formationHP:0100838
  • Recurrent pneumoniaHP:0006532
  • Short statureHP:0004322
  • SinusitisHP:0000246
  • Skin rashHP:0000988
  • Skin ulcerHP:0200042

Frequent (79-30%)(8)

  • Abnormal lung morphologyHP:0002088
  • ArthritisHP:0001369
  • CellulitisHP:0100658
  • Decreased total neutrophil countHP:0001875
  • HypocalcemiaHP:0002901
  • MeningitisHP:0001287
  • Sensorineural hearing impairmentHP:0000407
  • SepsisHP:0100806

Occasional (29-5%)(10)

  • AlopeciaHP:0001596
  • AnemiaHP:0001903
  • AutoimmunityHP:0002960
  • HepatitisHP:0012115
  • Hypopigmented skin patchesHP:0001053
  • MalabsorptionHP:0002024
  • NeoplasmHP:0002664
  • OsteomyelitisHP:0002754
  • ThrombocytopeniaHP:0001873
  • Weight lossHP:0001824