Дефіцит пуриннуклеозидфосфорилази
ORPHA:760· ICD-10 D81.5· Purine nucleoside phosphorylase deficiency
Визначення(English summary)
A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood, Infancy