Těžký kombinovaný imunodeficit způsobený deficitem CTPS1
ORPHA:420573· ICD-10 D81.2· Severe combined immunodeficiency due to CTPS1 deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Childhood, Infancy, Neonatal
ORPHA:420573· ICD-10 D81.2· Severe combined immunodeficiency due to CTPS1 deficiency