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Severe combined immunodeficiency due to DNA-PKcs deficiency

MONDO:0014423

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

Also known as: SCID due to DNA-PKcs deficiency, IMD26, immunodeficiency 26 with or without neurologic abnormalities

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

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Broader categories

Disease (618) Hereditary disease (172) Immune system disorder (140) Immunodeficiency disease (48) Severe combined immunodeficiency (21) 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! 11 Completed 4 Terminated 1
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  • 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

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