T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
ORPHA:169154DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0002719Recurrent infections
Частый (30–79%)8
HP:0001508Failure to thrive
HP:0001888Lymphopenia
HP:0004429Recurrent viral infections
HP:0005403Decreased total T cell count
HP:0005415Decreased proportion of CD8-positive T cells
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0032218Decreased proportion of CD4-positive T cells
HP:0045080Decreased proportion of CD3-positive T cells
Периодический (5–29%)20
HP:0000155Oral ulcer
HP:0001019Erythroderma
HP:0001433Hepatosplenomegaly
HP:0001596Alopecia
HP:0001875Decreased total neutrophil count
HP:0001880Eosinophilia
HP:0001945Fever
HP:0001973Autoimmune thrombocytopenia
HP:0002028Chronic diarrhea
HP:0002716Lymphadenopathy
HP:0002783Recurrent lower respiratory tract infections
HP:0002788Recurrent upper respiratory tract infections
HP:0003212Increased circulating IgE level
HP:0003237Increased circulating IgG level
HP:0003261Increased circulating IgA level
HP:0005401Recurrent candida infections
HP:0010702Increased circulating antibody level
HP:0025526Psoriasiform lesion
HP:0040187Neonatal sepsis
HP:0100827Lymphocytosis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | <1 / 1 000 000 | 0.04 | Chile | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)