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Autosomal dominant severe congenital neutropenia

ORPHA:486 · Disease · Disorder

HPO 表現型（共 31 項）

Obligate (100%)(1)

  • Decreased total neutrophil countHP:0001875

Very frequent (99-80%)(2)

  • Recurrent bacterial infectionsHP:0002718
  • Recurrent viral infectionsHP:0004429

Frequent (79-30%)(16)

  • Abdominal painHP:0002027
  • Decreased total lymphocyte countHP:0001888
  • DiarrheaHP:0002014
  • FeverHP:0001945
  • GingivitisHP:0000230
  • Increased total monocyte countHP:0012311
  • Oral ulcerHP:0000155
  • PeriodontitisHP:0000704
  • PharyngitisHP:0025439
  • PneumoniaHP:0002090
  • Recurrent aphthous stomatitisHP:0011107
  • Recurrent ear infectionsHP:0410018
  • Recurrent infection of the gastrointestinal tractHP:0004798
  • Recurrent sinopulmonary infectionsHP:0005425
  • Recurrent skin infectionsHP:0001581
  • RhinitisHP:0012384

Occasional (29-5%)(12)

  • Acute lymphoblastic leukemiaHP:0006721
  • Acute myeloid leukemiaHP:0004808
  • Antineutrophil antibody positivityHP:0003453
  • Aplastic anemiaHP:0001915
  • CellulitisHP:0100658
  • HemangiomaHP:0001028
  • Increased total eosinophil countHP:0001880
  • LeukemiaHP:0001909
  • MyelodysplasiaHP:0002863
  • OsteopeniaHP:0000938
  • Premature loss of teethHP:0006480
  • Pyoderma gangrenosumHP:0025452