Severe combined immunodeficiency due to DCLRE1C deficiency
ORPHA:275DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)2
HP:0005403Decreased total T cell count
HP:0010976Decreased total B cell count
Частый (30–79%)10
HP:0001890Autoimmune hemolytic anemia
HP:0002110Bronchiectasis
HP:0002718Recurrent bacterial infections
HP:0002720Decreased circulating IgA level
HP:0004315Decreased circulating IgG level
HP:0005390Recurrent opportunistic infections
HP:0031292Cutaneous abscess
HP:0200043Verrucae
HP:0200117Recurrent upper and lower respiratory tract infections
HP:6000070Cutaneous granuloma
Периодический (5–29%)15
HP:0000388Otitis media
HP:0000988Skin rash
HP:0001045Vitiligo
HP:0001508Failure to thrive
HP:0001973Autoimmune thrombocytopenia
HP:0002041Intractable diarrhea
HP:0002664Neoplasm
HP:0002960Autoimmunity
HP:0004429Recurrent viral infections
HP:0005681Juvenile rheumatoid arthritis
HP:0009098Chronic oral candidiasis
HP:0011107Recurrent aphthous stomatitis
HP:0011274Recurrent mycobacterial infections
HP:0031123Recurrent gastroenteritis
HP:0045080Decreased proportion of CD3-positive T cells
Очень редкий (1–4%)1
HP:0000872Hashimoto thyroiditis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)