| Term Name: | DNA ligase IV deficiency | 
|---|---|
| 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 ) |