Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to CRAC channel dysfunction
Definition
A form of combined immunodeficiency 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.
Also known as immune dysfunction due to T-cell inactivation due to calcium entry defect — per MONDO