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Activated PI3K-delta syndrome 2

ORPHA:693681 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(12)

  • BronchiectasisHP:0002110
  • Combined immunodeficiencyHP:0005387
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG2 concentrationHP:0008348
  • Decreased total B cell countHP:0010976
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • Intestinal lymphoid nodular hyperplasiaHP:0011956
  • LymphadenopathyHP:0002716
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322
  • SplenomegalyHP:0001744

Occasional (29-5%)(9)

  • AutoimmunityHP:0002960
  • Chronic active EBV infectionHP:0032204
  • Chronic intestinal candidiasisHP:0005411
  • ConjunctivitisHP:0000509
  • DiarrheaHP:0002014
  • HepatomegalyHP:0002240
  • MalabsorptionHP:0002024
  • Persistent CMV viremiaHP:0032247
  • Unusual molluscum contagiosumHP:0032163