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STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
ORPHA:391487 · Disease · Disorder
HPO 表現型（共 47 項）
Very frequent (99-80%)(7)
- Abnormal intestine morphologyHP:0002242
- Delayed skeletal maturationHP:0002750
- Functional abnormality of the bladderHP:0000009
- Growth delayHP:0001510
- Recurrent mucocutaneous candidiasisHP:0002728
- Recurrent upper respiratory tract infectionsHP:0002788
- Short statureHP:0004322
Frequent (79-30%)(25)
- Abnormality of the endocrine systemHP:0000818
- Autoimmune hemolytic anemiaHP:0001890
- BronchiectasisHP:0002110
- Carotid artery dilatationHP:0012163
- Decreased total B cell countHP:0010976
- Decreased total lymphocyte countHP:0001888
- Delayed pubertyHP:0000823
- DiarrheaHP:0002014
- Dilatation of the cerebral arteryHP:0004944
- Eczematoid dermatitisHP:0000964
- EnterocolitisHP:0004387
- Generalized osteoporosisHP:0040160
- HepatosplenomegalyHP:0001433
- Immune dysregulationHP:0002958
- ImmunodeficiencyHP:0002721
- Inflammatory abnormality of the skinHP:0011123
- OsteopeniaHP:0000938
- Primary hypothyroidismHP:0000832
- Recurrent herpesHP:0005353
- Recurrent infectionsHP:0002719
- Renal artery stenosisHP:0001920
- Renovascular hypertensionHP:0100817
- ThyroiditisHP:0100646
- Type I diabetes mellitusHP:0100651
- Villous atrophyHP:0011473
Occasional (29-5%)(14)
- Abnormal circulating interferon-gamma concentrationHP:0030355
- Antiphospholipid antibody positivityHP:0003613
- Autoimmune neutropeniaHP:0001904
- Autoimmune thrombocytopeniaHP:0001973
- Congestive heart failureHP:0001635
- Esophageal carcinomaHP:0011459
- HepatitisHP:0012115
- Infectious encephalitisHP:0002383
- Medial calcification of large arteriesHP:0004966
- Oropharyngeal squamous cell carcinomaHP:0012182
- Patent foramen ovaleHP:0001655
- Pulmonary arterial hypertensionHP:0002092
- Recurrent Aspergillus infectionHP:0002724
- ThrombocytopeniaHP:0001873
Excluded (0%)(1)
- Decreased total T cell countHP:0005403