Тяжкий комбінований імунодефіцит, зумовлений дефіцитом LAT
ORPHA:504523· ICD-10 D81.2· Severe combined immunodeficiency due to LAT deficiency
Визначення(English summary)
A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy