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WHIM syndrome

ORPHA:51636 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(5)

  • Abnormal neutrophil morphologyHP:0011992
  • Bone marrow hypercellularityHP:0031020
  • Decreased total lymphocyte countHP:0001888
  • Decreased total neutrophil countHP:0001875
  • MyelokathexisHP:0031160

Frequent (79-30%)(8)

  • Decreased circulating immunoglobulin concentrationHP:0004313
  • PapillomaHP:0012740
  • PneumoniaHP:0002090
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent pneumoniaHP:0006532
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Respiratory tract infectionHP:0011947
  • VerrucaeHP:0200043

Occasional (29-5%)(11)

  • Abnormal small intestine morphologyHP:0002244
  • Abnormal speech patternHP:0002167
  • BronchiectasisHP:0002110
  • Cervix cancerHP:0030079
  • Limb ataxiaHP:0002070
  • Otitis mediaHP:0000388
  • PharyngitisHP:0025439
  • Poor fine motor coordinationHP:0007010
  • Postural instabilityHP:0002172
  • SinusitisHP:0000246
  • Tetralogy of FallotHP:0001636

Very rare (<4-1%)(10)

  • AtelectasisHP:0100750
  • CellulitisHP:0100658
  • Cutaneous melanomaHP:0012056
  • LymphadenitisHP:0002840
  • MeningitisHP:0001287
  • ParotitisHP:0011850
  • SeizureHP:0001250
  • SepsisHP:0100806
  • Severe periodontitisHP:0000166
  • VitiligoHP:0001045