Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ORPHA:37042DiseaseX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)1
HP:0002960Autoimmunity
Частый (30–79%)16
HP:0000818Abnormality of the endocrine system
HP:0000964Eczematoid dermatitis
HP:0000964Eczematoid dermatitis
HP:0001531Failure to thrive in infancy
HP:0001891Iron deficiency anemia
HP:0002242Abnormal intestine morphology
HP:0003111Abnormal blood ion concentration
HP:0003212Increased circulating IgE level
HP:0005208Secretory diarrhea
HP:0007473Crusting erythematous dermatitis
HP:0011123Inflammatory abnormality of the skin
HP:0012393Allergy
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0031401Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0100646Thyroiditis
HP:0100651Type I diabetes mellitus
Периодический (5–29%)28
HP:0000821Hypothyroidism
HP:0001025Urticaria
HP:0001581Recurrent skin infections
HP:0001875Decreased total neutrophil count
HP:0001890Autoimmune hemolytic anemia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001970Tubulointerstitial nephritis
HP:0001973Autoimmune thrombocytopenia
HP:0002013Vomiting
HP:0002024Malabsorption
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0002719Recurrent infections
HP:0002901Hypocalcemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002917Hypomagnesemia
HP:0003073Hypoalbuminemia
HP:0003765Psoriasiform dermatitis
HP:0004326Cachexia
HP:0006515Interstitial pneumonitis
HP:0008066Abnormal blistering of the skin
HP:0008404Nail dystrophy
HP:0012115Hepatitis
HP:0012578Membranous nephropathy
HP:0030909Anti-liver cytosolic antigen type 1 antibody positivity
HP:0031085Decreased prealbumin level
HP:0031104Insulin receptor antibody positivity
HP:0031123Recurrent gastroenteritis
Очень редкий (1–4%)15
HP:0000100Nephrotic syndrome
HP:0000836Hyperthyroidism
HP:0001287Meningitis
HP:0001596Alopecia
HP:0001744Splenomegaly
HP:0002090Pneumonia
HP:0002583Colitis
HP:0002595Ileus
HP:0002716Lymphadenopathy
HP:0002754Osteomyelitis
HP:0005263Gastritis
HP:0025156Dependency on intravenous nutrition
HP:0040288Nasogastric tube feeding
HP:0100614Myositis
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 195 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)