Combined immunodeficiency due to CRAC channel dysfunction (Q88882): Difference between revisions

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Latest 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
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).