T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
ORPHA:169160DiseaseAutosomal recessiveInfancy
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CD3D | CD3 delta subunit of T-cell receptor complex | Disease-causing germline mutation(s) in | gene with protein product | 186790 |
| CD3E | CD3 epsilon subunit of T-cell receptor complex | Disease-causing germline mutation(s) in | gene with protein product | 186830 |
| CD247 | CD247 molecule | Disease-causing germline mutation(s) in | gene with protein product | 186780 |
Фенотипы (HPO)23
Очень частый (80–99%)1
HP:0002719Recurrent infections
Частый (30–79%)7
HP:0001888Lymphopenia
HP:0001945Fever
HP:0003460Decreased circulating total IgA
HP:0004315Decreased circulating IgG level
HP:0008866Failure to thrive secondary to recurrent infections
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0045080Decreased proportion of CD3-positive T cells
Периодический (5–29%)15
HP:0000388Otitis media
HP:0001019Erythroderma
HP:0001433Hepatosplenomegaly
HP:0001880Eosinophilia
HP:0002014Diarrhea
HP:0002039Anorexia
HP:0002090Pneumonia
HP:0002722Recurrent abscess formation
HP:0004385Protracted diarrhea
HP:0005353Recurrent herpes
HP:0005401Recurrent candida infections
HP:0006532Recurrent pneumonia
HP:0009098Chronic oral candidiasis
HP:0010702Increased circulating antibody level
HP:0012115Hepatitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)