Тяжкий комбінований імунодефіцит через дефіцит LCK
ORPHA:280142· ICD-10 D81.1· Combined immunodeficiency due to LCK deficiency
Визначення(English summary)
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal