Human genes for DNA ligase IV deficiency
DNA ligase IV deficiency [DOID:0060021]
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.
Synonyms: DNA ligase IV deficiency, DNA ligase IV deficiencies, DOID:0060021, LIG4 Syndrome, LIG4 disease ...
Linkouts: OMIM