Details of Disease
General Information of Disease (ID: DISD9X8U)
| Disease Name | Combined immunodeficiency due to CRAC channel dysfunction | |||||
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| Synonyms | immune dysfunction due to T-cell inactivation due to calcium entry defect | |||||
| 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.
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