Combined immunodeficiency due to ORAI1 deficiency (Q88871)
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Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to calcium release activated Ca2+ (CRAC) channel dysfunction. It is characterised by recurrent infections, congenital myopathy, ectodermal dysplasia and anhidrosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_677672007 |
||
| English | Combined immunodeficiency due to ORAI1 deficiency |
Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to calcium release activated Ca2+ (CRAC) channel dysfunction. It is characterised by recurrent infections, congenital myopathy, ectodermal dysplasia and anhidrosis. |
