Combined immunodeficiency due to STIM1 deficiency (Q88884)
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Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to calcium release activated Ca2+(CRAC) channel dysfunction. It is characterised by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_8644198 |
||
| English | Combined immunodeficiency due to STIM1 deficiency |
Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to calcium release activated Ca2+(CRAC) channel dysfunction. It is characterised by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. |
Statements
CID11:ID_8644198
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dki-india-ID_8644198
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Concluído
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