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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 stem cell method aims to protect kids with rare immune disease

Disease control Terminated

This study tested a way to improve stem cell transplants for children with combined immunodeficiency (CID), a condition where the immune system doesn't work properly. The approach removed certain naive cells from the donor stem cells to try to prevent graft-versus-host disease (a…

Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control

Last updated Jun 27, 2026 12:02 UTC