Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
ORPHA:2314DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)9
HP:0000964Eczematoid dermatitis
HP:0000988Skin rash
HP:0000989Pruritus
HP:0002205Recurrent respiratory infections
HP:0002719Recurrent infections
HP:0003212Increased circulating IgE level
HP:0011354Generalized abnormality of skin
HP:0100750Atelectasis
HP:0200042Skin ulcer
Частый (30–79%)32
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000230Gingivitis
HP:0000271Abnormality of the face
HP:0000303Mandibular prognathia
HP:0000324Facial asymmetry
HP:0000389Chronic otitis media
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000684Delayed eruption of teeth
HP:0000703Dentinogenesis imperfecta
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001114Xanthelasma
HP:0001595Abnormality of the hair
HP:0001818Paronychia
HP:0001880Eosinophilia
HP:0002020Gastroesophageal reflux
HP:0002110Bronchiectasis
HP:0002650Scoliosis
HP:0002726Recurrent Staphylococcus aureus infections
HP:0002728Chronic mucocutaneous candidiasis
HP:0002757Recurrent fractures
HP:0006532Recurrent pneumonia
HP:0008391Dystrophic fingernails
HP:0011220Prominent forehead
HP:0012735Cough
HP:0025419Pulmonary pneumatocele
HP:0031292Cutaneous abscess
HP:0031690Opportunistic infection
HP:0200034Papule
HP:0001382Joint hypermobility
Периодический (5–29%)8
HP:0001363Craniosynostosis
HP:0001945Fever
HP:0002617Dilatation
HP:0002665Lymphoma
HP:0002754Osteomyelitis
HP:0007099Chiari type I malformation
HP:0100658Cellulitis
HP:0200037Skin vesicle
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)