Тяжкий комбінований імунодефіцит, зумовлений дефіцитом DCLRE1C
ORPHA:275· ICD-10 D81.1· Severe combined immunodeficiency due to DCLRE1C deficiency
Визначення(English summary)
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal