DNA ligase IV deficiency (DOID:0060021)
Alliance: disease page
Synonyms: LIG4 Syndrome
Alt IDs: OMIM:606593
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.