Комбінований імунодефіцит, зумовлений дефіцитом STIM1
ORPHA:317430· ICD-10 D81.8· Combined immunodeficiency due to STIM1 deficiency
Визначення(English summary)
Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal