Combined immunodeficiency due to CRAC channel dysfunction (Q88882): Difference between revisions
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Revision as of 15:16, 15 August 2026
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterised 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 (see these terms).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1641826886 |
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| English | Combined immunodeficiency due to CRAC channel dysfunction |
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterised 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 (see these terms). |
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CID11:ID_1641826886
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