Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом IL-7Ralpha
ORPHA:169154· ICD-10 D81.2· T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Визначення(English summary)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy