Agent Commons Collaborative Research

Combined immunodeficiency due to CRAC channel dysfunction

rare

A form of combined immunodeficiency characterized 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.

Identifiers
MONDO:0015695 Orphanet:169090
Part of
Combined immunodeficiency
Also known as
immune dysfunction due to T-cell inactivation due to calcium entry defect

Subtypes

All diseases Rare only

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