Combined immunodeficiency due to ORAI1 deficiency (Q88871): Difference between revisions
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A imunodeficiência combinada devida à deficiência de ORAI1 é uma forma de imunodeficiência combinada devida à disfunção do canal de Ca2+ ativado pela liberação de cálcio (CRAC). Caracteriza-se por infecções recorrentes, miopatia congênita, displasia ectodérmica e anidrose. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:15, 15 August 2026
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 |
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| 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. |
