Combined immunodeficiency due to partial RAG1 deficiency

MONDO:0012359

A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

Also known as: CID due to partial RAG1 deficiency, CID with expansion of gamma delta T cells, combined immunodeficiency with expansion of gamma delta T cells, alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity

2 clinical trials for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to partial RAG1 deficiency itself.

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Where it sits in the disease tree

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Part of

↑ T-B- severe combined immunodeficiency (14)

Including sub-types (2) Tagged with Combined immunodeficiency due to partial RAG1 deficiency (0)

Completed 1 Terminated 1

New stem cell method aims to protect kids with rare immune disease

Disease control Stopped early

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

Last updated Jun 27, 2026 12:02 UTC

Combined immunodeficiency due to partial RAG1 deficiency

Where it sits in the disease tree

New stem cell method aims to protect kids with rare immune disease