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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ORPHA:436159 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(1)

  • Decreased circulating immunoglobulin concentrationHP:0004313

Frequent (79-30%)(13)

  • Atopic dermatitisHP:0001047
  • Autoimmune hemolytic anemiaHP:0001890
  • Autoimmune thrombocytopeniaHP:0001973
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • DiarrheaHP:0002014
  • HepatomegalyHP:0002240
  • LymphadenopathyHP:0002716
  • PneumoniaHP:0002090
  • Recurrent lower respiratory tract infectionsHP:0002783
  • Recurrent upper respiratory tract infectionsHP:0002788
  • SplenomegalyHP:0001744

Occasional (29-5%)(14)

  • Atrophic gastritisHP:0002582
  • Autoimmune neutropeniaHP:0001904
  • BronchiectasisHP:0002110
  • Crohn's diseaseHP:0100280
  • Eczematoid dermatitisHP:0000964
  • Growth delayHP:0001510
  • Inflammation of the large intestineHP:0002037
  • Lymphocytic infiltration of the colorectal mucosaHP:0032216
  • LymphomaHP:0002665
  • Psoriasiform dermatitisHP:0003765
  • Recurrent Candida infectionHP:0005401
  • SepsisHP:0100806
  • ThyroiditisHP:0100646
  • Type I diabetes mellitusHP:0100651

Very rare (<4-1%)(3)

  • Bilateral tonic-clonic seizureHP:0002069
  • Optic neuritisHP:0100653
  • Pure red cell aplasiaHP:0012410