Term Name: | DNA ligase IV deficiency |
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Synonyms: | LIG4 Syndrome |
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. |
Ontology: | Human Disease [DOID:0060021] ( DOID:0060021 ) |