Тяжкий комбінований імунодефіцит, зумовлений дефіцитом ДНК-PKcs
ORPHA:317425· ICD-10 D81.1· Severe combined immunodeficiency due to DNA-PKcs deficiency
Визначення(English summary)
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal