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DNA ligase IV deficiency

MONDO:0011686

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

Also known as: DNA ligase IV deficiency, LIG4 syndrome, ligase 4 syndrome

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

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Broader categories

Disease (680) Hereditary disease (176) Immune system disorder (148) Immunodeficiency disease (54) Syndromic disease (25) Severe combined immunodeficiency (23) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 1 Completed 1 Terminated 1
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  • Bubble baby breakthrough? experimental cell shot aims to reboot immune system faster

    Disease control Completed

    This early-phase trial tested whether injecting special immune-building cells (HTLPs) could help children with severe combined immunodeficiency (SCID) rebuild their immune system faster after a partially matched stem cell transplant. Only 4 children took part. The goal was to see…

    Phase: PHASE1, PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control

    Last updated Jun 27, 2026 12:36 UTC

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