Combined immunodeficiency due to CRAC channel dysfunction
ORPHA:169090DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)16
HP:0000389Chronic otitis media
HP:0000705Amelogenesis imperfecta
HP:0001252Hypotonia
HP:0001287Meningitis
HP:0001945Fever
HP:0002090Pneumonia
HP:0002718Recurrent bacterial infections
HP:0002721Immunodeficiency
HP:0002841Recurrent fungal infections
HP:0002960Autoimmunity
HP:0003198Myopathy
HP:0004429Recurrent viral infections
HP:0007676Hypoplasia of the iris
HP:0011084Hypocalcification of dental enamel
HP:0011274Recurrent mycobacterial infections
HP:0100806Sepsis
Частый (30–79%)4
HP:0000970Anhidrosis
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
Периодический (5–29%)3
HP:0001873Thrombocytopenia
HP:0001878Hemolytic anemia
HP:0002664Neoplasm
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)