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Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

ORPHA:2314 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(9)

  • AtelectasisHP:0100750
  • Eczematoid dermatitisHP:0000964
  • Generalized abnormality of skinHP:0011354
  • Increased circulating IgE concentrationHP:0003212
  • PruritusHP:0000989
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Skin rashHP:0000988
  • Skin ulcerHP:0200042

Frequent (79-30%)(32)

  • Abnormal hair morphologyHP:0001595
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the faceHP:0000271
  • BronchiectasisHP:0002110
  • Chronic otitis mediaHP:0000389
  • Cleft palateHP:0000175
  • CoughHP:0012735
  • Cutaneous abscessHP:0031292
  • Deeply set eyeHP:0000490
  • Delayed eruption of teethHP:0000684
  • Dentinogenesis imperfectaHP:0000703
  • Dystrophic fingernailsHP:0008391
  • Facial asymmetryHP:0000324
  • Gastroesophageal refluxHP:0002020
  • GingivitisHP:0000230
  • Increased total eosinophil countHP:0001880
  • Joint hypermobilityHP:0001382
  • Mandibular prognathiaHP:0000303
  • Opportunistic infectionHP:0031690
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • PapuleHP:0200034
  • ParonychiaHP:0001818
  • Prominent foreheadHP:0011220
  • Pulmonary pneumatoceleHP:0025419
  • Recurrent fracturesHP:0002757
  • Recurrent mucocutaneous candidiasisHP:0002728
  • Recurrent pneumoniaHP:0006532
  • Recurrent Staphylococcus aureus infectionHP:0002726
  • ScoliosisHP:0002650
  • Wide nasal bridgeHP:0000431
  • XanthelasmaHP:0001114

Occasional (29-5%)(8)

  • CellulitisHP:0100658
  • Chiari type I malformationHP:0007099
  • CraniosynostosisHP:0001363
  • FeverHP:0001945
  • LymphomaHP:0002665
  • OsteomyelitisHP:0002754
  • Skin vesicleHP:0200037
  • Vascular dilatationHP:0002617