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T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

MONDO:0015701

A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.

Also known as: IL-7R, IL-7Ralpha deficiency, T-B+ SCID due to IL-7Ralpha deficiency, interleukin-7 receptor alpha deficiency

17 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 developmental or physiological process (0)
Trials to join now! 11 Not yet finished but already full! 1 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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