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Combined immunodeficiency due to CRAC channel dysfunction

MONDO:0015695

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.

Also known as: immune dysfunction due to T-cell inactivation due to calcium entry defect

2 clinical trials for this condition and its sub-types.

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Sub-types

Combined immunodeficiency due to ORAI1 deficiency (0) Combined immunodeficiency due to STIM1 deficiency (0)

Broader categories

Disease (647) Hereditary disease (176) Immune system disorder (142) Immunodeficiency disease (50) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Terminated 1

New heart test could predict sudden cardiac death risk

Diagnosis Recruiting now

This study aims to develop a new clinical test to diagnose Calcium Release Deficiency Syndrome (CRDS), a rare inherited heart condition that increases the risk of sudden cardiac arrest. Researchers will use a pacing procedure to measure heart wave changes in 400 participants, inc…

Phase: NA • Sponsor: Population Health Research Institute • Aim: Diagnosis

Last updated Jul 24, 2026 00:00 UTC