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Hypohidrotic ectodermal dysplasia with immunodeficiency

ORPHA:98813 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(8)

  • Abnormal circulating immunoglobulin concentrationHP:0010701
  • Conical toothHP:0000698
  • Ectodermal dysplasiaHP:0000968
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HypohidrosisHP:0000966
  • Recurrent bacterial infectionsHP:0002718
  • Sparse hairHP:0008070

Frequent (79-30%)(8)

  • Absent peripheral lymph nodes in presence of infectionHP:0033581
  • Chronic diarrheaHP:0002028
  • Increased total B cell countHP:0005404
  • Increased total T cell countHP:0100828
  • Inflammation of the large intestineHP:0002037
  • Recurrent mucocutaneous candidiasisHP:0002728
  • Recurrent mycobacterial infectionsHP:0011274
  • Recurrent otitis mediaHP:0000403

Occasional (29-5%)(18)

  • AutoimmunityHP:0002960
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Eczematoid dermatitisHP:0000964
  • Feeding difficulties in infancyHP:0008872
  • Genital edemaHP:0031188
  • HypopituitarismHP:0040075
  • Increased circulating IgE concentrationHP:0003212
  • Increased circulating IgG concentrationHP:0003237
  • Increased circulating IgM concentrationHP:0003496
  • Invasive fungal infectionHP:0020101
  • Nail dystrophyHP:0008404
  • OsteopeniaHP:0000938
  • Pedal edemaHP:0010741
  • Recurrent sinusitisHP:0011108
  • Severe viral infectionHP:0031691