Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and the generation of the T cell receptor and immunoglobulin molecules. Defects in LIG4 result in a variable syndrome of growth retardation, pancytopenia, combined immunodeficiency, cellular radiosensitivity, and developmental delay. We diagnosed a patient with LIG4 syndrome by radiosensitivity...