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Activated PI3K-delta syndrome

ORPHA:397596 · Clinical group · Group of disorders

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • PneumoniaHP:0002090
  • Recurrent upper and lower respiratory tract infectionsHP:0200117

Frequent (79-30%)(11)

  • AutoimmunityHP:0002960
  • BronchiectasisHP:0002110
  • Chronic sinusitisHP:0011109
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total B cell countHP:0010976
  • HepatomegalyHP:0002240
  • Increased circulating IgM concentrationHP:0003496
  • Intestinal lymphoid nodular hyperplasiaHP:0011956
  • LymphadenopathyHP:0002716
  • Recurrent otitis mediaHP:0000403
  • SplenomegalyHP:0001744

Occasional (29-5%)(11)

  • Abnormal intestine morphologyHP:0002242
  • ArthritisHP:0001369
  • Failure to thriveHP:0001508
  • Hearing impairmentHP:0000365
  • LymphomaHP:0002665
  • MicrocephalyHP:0000252
  • Neurodevelopmental delayHP:0012758
  • Recurrent tonsillitisHP:0011110
  • Severe cytomegalovirus infectionHP:0031692
  • Severe Epstein Barr virus infectionHP:0031693
  • Severe varicella zoster infectionHP:0032170