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Activated PI3K-delta syndrome 1

ORPHA:693661 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(1)

  • Recurrent respiratory infectionsHP:0002205

Frequent (79-30%)(7)

  • AutoimmunityHP:0002960
  • BronchiectasisHP:0002110
  • Decreased total B cell countHP:0010976
  • HepatomegalyHP:0002240
  • Intestinal lymphoid nodular hyperplasiaHP:0011956
  • LymphadenopathyHP:0002716
  • SplenomegalyHP:0001744

Occasional (29-5%)(13)

  • Chronic active EBV infectionHP:0032204
  • ConjunctivitisHP:0000509
  • DacryocystitisHP:0000620
  • DiarrheaHP:0002014
  • Global developmental delayHP:0001263
  • MalabsorptionHP:0002024
  • Persistent CMV viremiaHP:0032247
  • Persistent human papillomavirus infectionHP:0020114
  • Recurrent Candida infectionHP:0005401
  • Recurrent tonsillitisHP:0011110
  • Short statureHP:0004322
  • Unusual molluscum contagiosumHP:0032163
  • VerrucaeHP:0200043

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

  • Disseminated cryptosporidium infectionHP:0031699