Combined immunodeficiency due to CRAC channel dysfunction (Q88882): Difference between revisions
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Imunodeficiência combinada (CID) devida a disfunção do canal de Ca2+ ativado por liberação de Ca2+ (CRAC) é uma forma de CID caracterizada por infecções recorrentes, autoimunidade, miopatia congênita e displasia ectodérmica. Compreende dois subtipos que são devidos a mutações nos genes ORAI1 e STIM1: CID devida à deficiência de ORAI1 e CID devida à deficiência de STIM1 (ver estes termos). | |||
| description / en | description / en | ||
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). | |||
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). |
