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Deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA:293978 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(17)

  • Adrenocorticotropin deficient adrenal insufficiencyHP:0011735
  • Decreased circulating ACTH concentrationHP:0002920
  • Decreased circulating cortisol levelHP:0008163
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • FatigueHP:0012378
  • Hypoglycemic comaHP:0001325
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615
  • Recurrent bronchitisHP:0002837
  • Recurrent hypoglycemiaHP:0001988
  • Recurrent otitis mediaHP:0000403
  • Recurrent pharyngitisHP:0100776
  • Recurrent pneumoniaHP:0006532
  • Recurrent sinusitisHP:0011108
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Recurrent viral infectionsHP:0004429
  • Severe B lymphocytopeniaHP:0005365

Frequent (79-30%)(6)

  • Abnormal lymphocyte morphologyHP:0004332
  • Abnormal periungual morphologyHP:0100803
  • Abnormal size of pituitary glandHP:0012504
  • AlopeciaHP:0001596
  • BronchiectasisHP:0002110
  • Nail dystrophyHP:0008404

Occasional (29-5%)(11)

  • Alopecia totalisHP:0007418
  • Autoimmune thrombocytopeniaHP:0001973
  • Decreased circulating androgen concentrationHP:0030349
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Decreased response to growth hormone stimulation testHP:0000824
  • DiplopiaHP:0000651
  • Failure to thriveHP:0001508
  • Generalized non-motor (absence) seizureHP:0002121
  • Global developmental delayHP:0001263
  • Psoriasiform dermatitisHP:0003765
  • SepsisHP:0100806

Excluded (0%)(4)

  • Autoimmune antibody positivityHP:0030057
  • HyperkalemiaHP:0002153
  • ThyroiditisHP:0100646
  • VitiligoHP:0001045