Комбінований імунодефіцит внаслідок дисфункції CRAC-каналу
ORPHA:169090· ICD-10 D81.8· Combined immunodeficiency due to CRAC channel dysfunction
Визначення(English summary)
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal