FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term DNA ligase IV deficiency ID (Ontology) DOID:0060021 (Human Disease)
Definition A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
Also Known As "LIG4 Syndrome"
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 Genes
 DNA ligase IV deficiency       1
 for disease ribbon | DNA ligase IV deficiency       1
 model of | DNA ligase IV deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 DNA ligase IV deficiency  1 rec.
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Is a autosomal recessive disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "LIG4 Syndrome" EXACT
Secondary IDs
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MIM:606593