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X-linked lymphoproliferative disease due to XIAP deficiency

ORPHA:538934 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(1)

  • ImmunodeficiencyHP:0002721

Frequent (79-30%)(7)

  • Crohn's diseaseHP:0100280
  • HepatitisHP:0012115
  • Jejunoileal ulcerationHP:0005229
  • PancytopeniaHP:0001876
  • Recurrent feverHP:0001954
  • Splenic hemophagocytosisHP:0034799
  • SplenomegalyHP:0001744

Occasional (29-5%)(13)

  • ArthritisHP:0001369
  • CholangitisHP:0030151
  • ColitisHP:0002583
  • Cutaneous abscessHP:0031292
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Erythema nodosumHP:0012219
  • Inflammation of the large intestineHP:0002037
  • NephritisHP:0000123
  • Recurrent infectionsHP:0002719
  • Reduced total natural killer cell countHP:0040218
  • Renal insufficiencyHP:0000083
  • Severe Epstein Barr virus infectionHP:0031693
  • UveitisHP:0000554

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

  • Hepatic failureHP:0001399