Immunodeficiency by defective expression of MHC class I
ORPHA:34592DiseaseAutosomal recessiveChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TAP2 | transporter 2, ATP binding cassette subfamily B member | Disease-causing germline mutation(s) in | gene with protein product | 170261 |
| TAP1 | transporter 1, ATP binding cassette subfamily B member | Disease-causing germline mutation(s) in | gene with protein product | 170260 |
| TAPBP | TAP binding protein | Disease-causing germline mutation(s) in | gene with protein product | 601962 |
| B2M | beta-2-microglobulin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 109700 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)