Severe combined immunodeficiency due to adenosine deaminase deficiency
ORPHA:277DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)20
Частый (30–79%)20
HP:0000246Sinusitis
HP:0000403Recurrent otitis media
HP:0001508Failure to thrive
HP:0001888Lymphopenia
HP:0002014Diarrhea
HP:0002788Recurrent upper respiratory tract infections
HP:0002849Absence of lymph node germinal center
HP:0002960Autoimmunity
HP:0003212Increased circulating IgE level
HP:0005354Lack of T cell function
HP:0005368Abnormality of humoral immunity
HP:0005390Recurrent opportunistic infections
HP:0005403Decreased total T cell count
HP:0006532Recurrent pneumonia
HP:0010444Pulmonary insufficiency
HP:0010976Decreased total B cell count
HP:0011123Inflammatory abnormality of the skin
HP:0012393Allergy
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0030813Absent tonsils
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)