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Autoimmune lymphoproliferative syndrome

ORPHA:3261 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(4)

  • AutoimmunityHP:0002960
  • Chronic noninfectious lymphadenopathyHP:0002730
  • LymphadenopathyHP:0002716
  • SplenomegalyHP:0001744

Frequent (79-30%)(14)

  • Abnormal bleedingHP:0001892
  • Abnormal circulating interleukin concentrationHP:0011117
  • Abnormal T cell apoptosisHP:0030886
  • Autoimmune hemolytic anemiaHP:0001890
  • Autoimmune neutropeniaHP:0001904
  • Autoimmune thrombocytopeniaHP:0001973
  • Bruising susceptibilityHP:0000978
  • HepatomegalyHP:0002240
  • HypersplenismHP:0001971
  • Increased circulating IgG concentrationHP:0003237
  • Increased circulating immunoglobulin concentrationHP:0010702
  • Increased circulating interleukin 10 concentrationHP:0033199
  • Increased double-negative T cell numberHP:0002851
  • Increased total B cell countHP:0005404

Occasional (29-5%)(31)

  • Abnormal CD4+ T cell subset proportionHP:0031392
  • Abnormal total CD8+ T cell numberHP:0031393
  • Abnormal vitamin B12 levelHP:0040126
  • Antineutrophil antibody positivityHP:0003453
  • Antinuclear antibody positivityHP:0003493
  • Antiphospholipid antibody positivityHP:0003613
  • B-cell lymphomaHP:0012191
  • Burkitt lymphomaHP:0030080
  • Coombs-positive hemolytic anemiaHP:0004844
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased specific anti-polysaccharide antibody concentrationHP:0002848
  • Decreased total CD4+ T cell proportionHP:0032218
  • Decreased total lymphocyte countHP:0001888
  • Elevated circulating sFASL concentrationHP:6000017
  • Elevated circulating vitamin B12 concentrationHP:6000016
  • GlomerulonephritisHP:0000099
  • HepatitisHP:0012115
  • Hodgkin lymphomaHP:0012189
  • Increased circulating IgA concentrationHP:0003261
  • Increased circulating IgE concentrationHP:0003212
  • Increased circulating interleukin 18 concentrationHP:0034447
  • Increased total eosinophil countHP:0001880
  • Increased total lymphocyte countHP:0100827
  • Non-Hodgkin lymphomaHP:0012539
  • ReticulocytosisHP:0001923
  • Rheumatoid factor positiveHP:0002923
  • T-cell lymphomaHP:0012190
  • ThyroiditisHP:0100646
  • UrticariaHP:0001025
  • VasculitisHP:0002633

Very rare (<4-1%)(23)

  • ArthritisHP:0001369
  • Basal cell carcinomaHP:0002671
  • Bone marrow hypercellularityHP:0031020
  • Bone marrow hypocellularityHP:0005528
  • ColitisHP:0002583
  • Fibroadenoma of the breastHP:0010619
  • GastritisHP:0005263
  • HeadacheHP:0002315
  • Hepatocellular carcinomaHP:0001402
  • Hydrops fetalisHP:0001789
  • Neoplasm of the skinHP:0008069
  • Neoplasm of the tongueHP:0100648
  • PanniculitisHP:0012490
  • Premature ovarian insufficiencyHP:0008209
  • Pulmonary fibrosisHP:0002206
  • Pulmonary infiltratesHP:0002113
  • Recurrent aphthous stomatitisHP:0011107
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • Systemic lupus erythematosusHP:0002725
  • Thyroid adenomaHP:0000854
  • Thyroid carcinomaHP:0002890
  • UveitisHP:0000554